4,984 results match your criteria Psychiatric Disorders Associated With Epilepsy


GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Brain 2018 Dec 12. Epub 2018 Dec 12.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by GRIN2A, have been associated with a spectrum of neurodevelopmental disorders with prominent speech-related features, and epilepsy. We performed a comprehensive assessment of phenotypes with a standardized questionnaire in 92 previously unreported individuals with GRIN2A-related disorders. Applying the criteria of the American College of Medical Genetics and Genomics to all published variants yielded 156 additional cases with pathogenic or likely pathogenic variants in GRIN2A, resulting in a total of 248 individuals. Read More

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http://dx.doi.org/10.1093/brain/awy304DOI Listing
December 2018

Incidence of epilepsy and associated factors in elderly patients in Germany.

Epilepsy Behav 2018 Dec 4;90:107-111. Epub 2018 Dec 4.

Epidemiology, IQVIA, Frankfurt, Germany. Electronic address:

Aims: Little is known about the recent epidemiology of epilepsy in the elderly in Germany. Therefore, the goal of this study was to analyze the incidence of epilepsy and associated factors in elderly patients followed in general practices in this country.

Methods: The incidence of epilepsy was estimated using data from all patients aged ≥60 years who were followed in 1203 general practices in Germany in 2017 (IQVIA Disease Analyzer database). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183081
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http://dx.doi.org/10.1016/j.yebeh.2018.10.035DOI Listing
December 2018
1 Read

Childhood seizures and risk of psychiatric disorders in adolescence and early adulthood: a Danish nationwide cohort study.

Lancet Child Adolesc Health 2018 Dec 6. Epub 2018 Dec 6.

National Center for Register-Based Research, Aarhus University, Aarhus, Denmark; Department of Neurology, Aarhus University Hospital, Aarhus, Denmark.

Background: Paediatric seizures have been linked to psychiatric disorders in childhood, but there is a paucity of large-scale population-based studies of psychiatric comorbidity in later life. We aimed to examine the relation between childhood seizures and the risk of psychiatric disorders in adolescence and early adulthood.

Methods: We did a register-based cohort study of all individuals born in Denmark in 1978-2002. Read More

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http://dx.doi.org/10.1016/S2352-4642(18)30351-1DOI Listing
December 2018

High-throughput brain activity mapping and machine learning as a foundation for systems neuropharmacology.

Nat Commun 2018 12 3;9(1):5142. Epub 2018 Dec 3.

Department of Biomedical Engineering, City University of Hong Kong, 999077, Kowloon, Hong Kong SAR, China.

Technologies for mapping the spatial and temporal patterns of neural activity have advanced our understanding of brain function in both health and disease. An important application of these technologies is the discovery of next-generation neurotherapeutics for neurological and psychiatric disorders. Here, we describe an in vivo drug screening strategy that combines high-throughput technology to generate large-scale brain activity maps (BAMs) with machine learning for predictive analysis. Read More

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http://dx.doi.org/10.1038/s41467-018-07289-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277389PMC
December 2018

Prevalence of psychiatric disorders in Thai patients with epilepsy.

Epilepsy Behav 2018 Nov 27;90:20-24. Epub 2018 Nov 27.

Department of Psychiatry, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Background: Many studies have shown that the prevalence of psychiatric disorders in patients with epilepsy (PWE) appears higher than that in general population. However, most epidemiological studies regarding psychiatric comorbidities among PWE were conducted in Western countries. This work aimed to determine the prevalence of psychiatric disorders in Thai PWE, including potential variables that could be associated with psychiatric disorders. Read More

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http://dx.doi.org/10.1016/j.yebeh.2018.11.004DOI Listing
November 2018
1 Read

Cadmium opens GluK2 kainate receptors with cysteine substitutions at the M3 helix bundle crossing.

J Gen Physiol 2018 Nov 29. Epub 2018 Nov 29.

Department of Cell Biology and Physiology, Washington University Medical School, St. Louis, MO

Kainate receptors are ligand-gated ion channels that have two major roles in the central nervous system: they mediate a postsynaptic component of excitatory neurotransmission at some glutamatergic synapses and modulate transmitter release at both excitatory and inhibitory synapses. Accumulating evidence implicates kainate receptors in a variety of neuropathologies, including epilepsy, psychiatric disorders, developmental delay, and cognitive impairment. Here, to gain a deeper understanding of the conformational changes associated with agonist binding and channel opening, we generate a series of Cys substitutions in the GluK2 kainate receptor subunit, focusing on the M3 helices that line the ion pore and form the bundle-crossing gate at the extracellular mouth of the channel. Read More

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http://dx.doi.org/10.1085/jgp.201812234DOI Listing
November 2018
1 Read

Improvement of Hypothalamic Hamartoma-related Psychiatric Disorder After Stereotactic Laser Ablation: Case Report and Review of the Literature.

World Neurosurg 2018 Nov 24. Epub 2018 Nov 24.

Department of Neurosurgery, Medical College of Wisconsin, Milwaukee, WI 53226; Department of Neurosurgery, Children's Hospital of Wisconsin, Milwaukee, WI 53226. Electronic address:

Background: Hypothalamic hamartomas (HHs) are non-neoplastic congenital malformations associated with refractory epilepsy and behavioral disorders. Improvement in behavioral functioning following resection of HHs has been reported. Stereotactic laser ablation (SLA), a minimally invasive technique, has been used for the treatment of HH-related epilepsy. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18788750183272
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http://dx.doi.org/10.1016/j.wneu.2018.11.166DOI Listing
November 2018
3 Reads

Experiences of self-conscious emotions in temporal lobe epilepsy.

Epilepsy Behav 2018 Nov 23;90:1-6. Epub 2018 Nov 23.

Univ. Lille, Inserm, CHU Lille, U1171 - Degenerative & Vascular Cognitive Disorders, Lille, France; Memory Resource and Research Center, Lille University Medical Center, Lille, France.

Self-conscious emotions (SCEs) with a negative valence (such as shame and guilt) or a positive valence (such as pride) are moral emotions that emerge from self-reflection and self-evaluation processes in social contexts. In some neurologic and psychiatric disorders, experiences of SCEs are dysregulated. The objectives of the present study were to (i) evaluate whether patients with temporal lobe epilepsy (TLE) experience SCEs in the same way as nonclinical (control) participants and (ii) probe the relationships between experiences of SCEs on the one hand and the psychological symptoms frequently diagnosed in patients with TLE (anxiety and depression), the patients' clinical characteristics, and their functional outcomes in everyday life on the other. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183053
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http://dx.doi.org/10.1016/j.yebeh.2018.10.028DOI Listing
November 2018
4 Reads

Common data elements (CDEs) for preclinical epilepsy research: Introduction to CDEs and description of core CDEs. A TASK3 report of the ILAE/AES joint translational task force.

Epilepsia Open 2018 Nov 26;3(Suppl Suppl 1):13-23. Epub 2018 Jul 26.

The Nathan Kline Institute for Psychiatric Research Orangeburg New York U.S.A.

Common data elements (CDEs) are becoming more common as more areas of preclinical research have generated CDEs. Herein we provide an overview of the progress to date in generating CDEs for preclinical epilepsy research. Currently there are CDEs that have been developed for Physiology (in vivo), Behavior, Pharmacology, and Electroencephalography (EEG). Read More

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http://doi.wiley.com/10.1002/epi4.12234
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http://dx.doi.org/10.1002/epi4.12234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210047PMC
November 2018
3 Reads

Factors underlying the development of chronic temporal lobe epilepsy in autoimmune encephalitis.

J Neurol Sci 2018 Oct 30;396:102-107. Epub 2018 Oct 30.

Epilepsy Unit, Department of Neurosciences/Mental Health, "Sapienza" University, Rome, Italy. Electronic address:

Purpose: Limbic encephalitis (LE) is an autoimmune condition characterized by amnestic syndrome, psychiatric features and seizures. Early diagnosis and prompt treatment are crucial to avoid long-term sequelae, including psycho-cognitive deficits and persisting seizures. The aim of our study was to analyze the characteristics of 33 LE patients in order to identify possible prognostic factors associated with the development of chronic epilepsy. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X183044
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http://dx.doi.org/10.1016/j.jns.2018.10.026DOI Listing
October 2018
14 Reads
2.474 Impact Factor

Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders.

Front Mol Neurosci 2018 23;11:387. Epub 2018 Oct 23.

Department of Pharmacology and Vanderbilt Center for Neuroscience Drug Discovery, Vanderbilt University, Nashville, TN, United States.

Neurodevelopmental disorders (NDDs) are characterized by a wide range of symptoms including delayed speech, intellectual disability, motor dysfunction, social deficits, breathing problems, structural abnormalities, and epilepsy. Unfortunately, current treatment strategies are limited and innovative new approaches are sorely needed to address these complex diseases. The metabotropic glutamate receptors are a class of G protein-coupled receptors that act to modulate neurotransmission across many brain structures. Read More

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https://www.frontiersin.org/article/10.3389/fnmol.2018.00387
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http://dx.doi.org/10.3389/fnmol.2018.00387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6206046PMC
October 2018
4 Reads

Primary Causes of Hospitalizations and Procedures, Predictors of In-hospital Mortality, and Trends in Cardiovascular and Cerebrovascular Events Among Recreational Marijuana Users: A Five-year Nationwide Inpatient Assessment in the United States.

Cureus 2018 Aug 23;10(8):e3195. Epub 2018 Aug 23.

Neurology, University of Kentucky, Lexington, USA.

Background Recent trends in the legalization of marijuana in many states are increasing the popularity of recreational marijuana use. Since current data on hospitalizations in marijuana users is sparse, we evaluated the primary reasons for admissions, procedures and associated healthcare burden in hospitalized recreational marijuana users. Methods The National Inpatient Sample (NIS) for the years 2010-2014 was queried for the hospitalizations with a history of recreational marijuana usage using applicable ICD-9 CM codes. Read More

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http://dx.doi.org/10.7759/cureus.3195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200442PMC
August 2018
4 Reads

Synthesis and in Vivo Evaluation of a Novel PET Radiotracer for Imaging of Synaptic Vesicle Glycoprotein 2A (SV2A) in Nonhuman Primates.

ACS Chem Neurosci 2018 Nov 16. Epub 2018 Nov 16.

PET Center, Department of Radiology and Biomedical Imaging , Yale University School of Medicine , New Haven , Connecticut 06520 , United States.

Structural disruption and alterations of synapses are associated with many brain disorders including Alzheimer's disease, epilepsy, depression, and schizophrenia. We have previously developed the PET radiotracer C-UCB-J for imaging and quantification of synaptic vesicle glycoprotein 2A (SV2A) and synaptic density in nonhuman primates and humans. Here we report the synthesis of a novel radiotracer F-SDM-8 and its in vivo evaluation in rhesus monkeys. Read More

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http://pubs.acs.org/doi/10.1021/acschemneuro.8b00526
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http://dx.doi.org/10.1021/acschemneuro.8b00526DOI Listing
November 2018
14 Reads

Increased mortality and morbidity in patients with chronic hypoparathyroidism: A population-based study.

Clin Endocrinol (Oxf) 2018 Oct 30. Epub 2018 Oct 30.

Department of Medicine, University of Dundee, Dundee, UK.

Objectives: A population-based study was undertaken to determine the mortality and morbidity for people with hypoparathyroidism compared to the general population.

Methods: In this study, patients identified with chronic hypoparathyroidism using data linkage from regional datasets were compared with five age- and gender-matched controls from the general population. Data from biochemistry, hospital admissions, prescribing and the demographic dataset were linked. Read More

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http://dx.doi.org/10.1111/cen.13895DOI Listing
October 2018
4 Reads

Imaging biomarkers of behavioral impairments: A pilot micro-positron emission tomographic study in a rat electrical post-status epilepticus model.

Epilepsia 2018 Dec 28;59(12):2194-2205. Epub 2018 Oct 28.

Institute of Pharmacology, Toxicology, and Pharmacy, Ludwig Maximilian University of Munich, Munich, Germany.

Objective: In patients with epilepsy, psychiatric comorbidities can significantly affect the disease course and quality of life. Detecting and recognizing these comorbidities is central in determining an optimal treatment plan. One promising tool in detecting biomarkers for psychiatric comorbidities in epilepsy is positron emission tomography (PET). Read More

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http://doi.wiley.com/10.1111/epi.14586
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http://dx.doi.org/10.1111/epi.14586DOI Listing
December 2018
7 Reads

Could nodding syndrome in Northern Uganda be a form of autism spectrum disorder? an observational study design.

Pan Afr Med J 2018 12;30:115. Epub 2018 Jun 12.

Gulu University, Faculty of Medicine, Department of Biochemistry, Gulu, Uganda.

Introduction: Nodding syndrome (NS) is associated with high anion gap, biotinidase and acetyl carnitine deficiency, vitamin B6 and D deficiency and internal displacement. The objective of this study was to conduct a metabolic analysis on NS children and review literature on its similarities with ASD.

Methods: We conducted biochemical analysis on blood and urine of NS children at Hope for HumaNs (HfH) centre in 2014 and reviewed literature on its similarities with ASD. Read More

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http://www.panafrican-med-journal.com/content/article/30/115
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http://dx.doi.org/10.11604/pamj.2018.30.115.13634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195236PMC
November 2018
7 Reads

Cognitive outcomes more than 5 years after temporal lobe epilepsy surgery: Remarkable functional recovery when seizures are controlled.

Seizure 2018 Nov 29;62:116-123. Epub 2018 Sep 29.

University of Bonn, Department of Epileptology, Germany.

Purpose: Epilepsy surgery can be a successful treatment option for temporal lobe epilepsy but there are concerns about accelerated memory decline in long-term follow-up.

Method: 161 adult operated (77 right, 84 left temporal resections) versus a heterogeneous group of 208 non-operated patients with focal epilepsies were consecutively recruited and re-evaluated focusing on memory, executive functions, and vocational outcome after follow-up intervals of >5 years (5-22 years, mean 8 ± 3 years).

Results: Major losses in the operated group manifest early, at one-year follow-up. Read More

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http://dx.doi.org/10.1016/j.seizure.2018.09.023DOI Listing
November 2018

Clinical characteristics of onchocerciasis-associated epilepsy in villages in Maridi County, Republic of South Sudan.

Seizure 2018 Nov 5;62:108-115. Epub 2018 Oct 5.

Neglected Tropical Diseases Unit, Ministry of Health, Juba, Sudan. Electronic address:

Purpose: To describe the clinical manifestations of persons with epilepsy (PWE) in onchocerciasis endemic villages in South Sudan.

Methods: During a survey in Maridi County in May 2018, PWE were interviewed and examined in their households by a clinical officer or medical doctor. Onchocerciasis-associated epilepsy (OAE) was defined as ≥2 seizures without any obvious cause, starting between the ages of 3-18 years in previously healthy persons who had resided for at least 3 years in the onchocerciasis endemic area. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183062
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http://dx.doi.org/10.1016/j.seizure.2018.10.004DOI Listing
November 2018
2 Reads

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.

Hum Mol Genet 2018 Oct 17. Epub 2018 Oct 17.

Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford OX1 3PT, UK.

Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) to non-syndromic hearing loss. TBC1D24 has been implicated in neuronal transmission and maturation, although the molecular function of the gene and the cause of the apparently complex disease spectrum remain unclear. Importantly, heterozygous TBC1D24 mutation carriers have also been reported with seizures, suggesting that haploinsufficiency for TBC1D24 is significant clinically. Read More

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddy370DOI Listing
October 2018
6 Reads
6.393 Impact Factor

Health of parents of individuals with developmental disorders or mental health problems: Impacts of stigma.

Soc Sci Med 2018 Nov 15;217:152-158. Epub 2018 Oct 15.

School of Social Work and Waisman Center, University of Wisconsin-Madison, Madison, USA. Electronic address:

Objective: Parents of individuals with developmental disorders or mental health problems often provide life-long care and support to their children, which negatively affects their health in part due to chronic stress. This study aimed to examine the experience of stigma as a source of chronic stress among parents of individuals with developmental disorders or mental health problems and the effect of stigma on parental health outcomes.

Method: Using data from the Survey of Midlife in the United States (MIDUS 2 and 3), we constructed a sample for a longitudinal analysis including 128 parents of individuals with developmental disorders (e. Read More

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http://dx.doi.org/10.1016/j.socscimed.2018.09.044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202233PMC
November 2018
1 Read

Assessment of Neurologic Disorders and Rare Intracranial Anomalies Associated With Cleft Lip and Palate.

J Craniofac Surg 2018 Nov;29(8):2195-2197

Department of Plastic, Reconstructive and Aesthetic Surgery and Hacettepe Cleft and Craniofacial Center.

Accompanying neurologic disorders directly affect psychosocial development of cleft lip and/or cleft palate (CLP) patients and make it difficult for their family to look after them properly. The aim of this study was to investigate the diversity and the incidence of additional neurologic malformations in children with CLP and to evaluate their effects on cleft care. All patients who applied to our Cleft and Craniofacial Center between July 2014 and July 2017 were included in the study. Read More

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http://Insights.ovid.com/crossref?an=00001665-900000000-9531
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http://dx.doi.org/10.1097/SCS.0000000000004848DOI Listing
November 2018
9 Reads

Subjective and physiological response to emotions in temporal lobe epilepsy and psychogenic non-epileptic seizures.

J Affect Disord 2019 Feb 5;244:46-53. Epub 2018 Oct 5.

Service de Neurophysiologie Clinique, Centre Hospitalo Universitaire de la Timone, 264, rue Saint-Pierre, Marseille 13005, France; Aix Marseille University, Inserm, INS, Institut de Neurosciences des Systèmes, Marseille, France.

Background: Temporal lobe epilepsy (TLE) and psychogenic non-epileptic seizures (PNES) are conditions frequently associated with dysfunction in emotional regulation leading to increased risk of affective disorders. This study investigates emotional processing with an objective measure of emotional reactivity in patients with TLE and patients with PNES.

Methods: 34 patients with TLE and 14 patients with PNES were evaluated on skin conductance responses (SCR) to emotions induced by short films and compared to 34 healthy controls. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01650327183130
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http://dx.doi.org/10.1016/j.jad.2018.10.004DOI Listing
February 2019
1 Read

Cross-sensitivity of psychiatric and behavioral side effects with antiepileptic drug use.

Seizure 2018 Nov 22;62:38-42. Epub 2018 Sep 22.

Comprehensive Epilepsy Center, Dept. of Neurology, Yale University, New Haven, CT United States.

Purpose: To determine rates of cross-sensitivity of intolerable psychiatric and behavioral side effects (IPBSEs) among commonly used antiepileptic drugs (AEDs) in adult patients with epilepsy.

Methods: IPBSE was defined as a psychiatric or behavioral side effect attributed to AED use that led to a decrease in dose or cessation of an AED. Cross-sensitivity was calculated and was defined as the likelihood of developing IPBSE to a specific AED given IPBSE to another AED. Read More

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http://dx.doi.org/10.1016/j.seizure.2018.09.014DOI Listing
November 2018

[Anxiety and depressive symptoms in epilepsy in the context of defense mechanisms and electrodermal activity].

Pol Merkur Lekarski 2018 Sep;45(267):107-113

Department of Neurology, Jagiellonian University Medical College in Cracow, Poland.

Depressive and anxiety disorders among people with epilepsy are more common than in general population and they are associated with less efficient emotion regulation and reduced quality of life. Unfortunately, these disorders are not always correctly diagnosed or treated. Some studies suggest that the electrodermal activity may serve as a marker for depression. Read More

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September 2018
2 Reads

Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.

BMC Neurol 2018 Sep 20;18(1):150. Epub 2018 Sep 20.

Division of Pediatrics Neurology, China Medical University, Children's Hospital, Taichung, Taiwan.

Background: Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2) is an extremely rare disease caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23. The syndrome causes not only numerous dysmorphic features but also hypotonia, developmental delay, and even intellectual disability. We report the first case of NSLH2 in Asia and the 16th in the world. Read More

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http://dx.doi.org/10.1186/s12883-018-1157-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148994PMC
September 2018
2 Reads

Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting.

Clin Neurol Neurosurg 2018 Nov 7;174:48-56. Epub 2018 Sep 7.

Department of Neurology, and Neuromuscular Laboratory, Neurobiology Research Centre, Bangalore, 560029, India; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.

Objective: To share the experience of next-generation sequencing (NGS) in delineating molecular basis of neuro-genetic disorders in adults of Indian origin.

Patients And Methods: Adults (aged ≥18 years) evaluated in a single neurology unit at a tertiary-care teaching hospital between August 2014 and September 2016, underwent NGS for (i) sporadic occurrence of neurological disorder where an extensive search did not reveal an acquired cause or (ii) familial or sporadic, uncommon, seemingly genetic disorder where single monogenic cause could not be ascertained based on phenotype. Presence of pathogenic/ likely-pathogenic variants, novel genetic variants, and novel phenotype associations were noted. Read More

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http://dx.doi.org/10.1016/j.clineuro.2018.09.012DOI Listing
November 2018

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.

Cell Rep 2018 Sep;24(11):2838-2856

Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Aichi 466-8550, Japan. Electronic address:

Compelling evidence in Caucasian populations suggests a role for copy-number variations (CNVs) in autism spectrum disorder (ASD) and schizophrenia (SCZ). We analyzed 1,108 ASD cases, 2,458 SCZ cases, and 2,095 controls in a Japanese population and confirmed an increased burden of rare exonic CNVs in both disorders. Clinically significant (or pathogenic) CNVs, including those at 29 loci common to both disorders, were found in about 8% of ASD and SCZ cases, which was significantly higher than in controls. Read More

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http://dx.doi.org/10.1016/j.celrep.2018.08.022DOI Listing
September 2018
3 Reads
7.210 Impact Factor

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.

Orphanet J Rare Dis 2018 Sep 10;13(1):157. Epub 2018 Sep 10.

UZ Brussel Vrije Universiteit Brussel, Brussels, Belgium.

Background: Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date have come from small studies and case reports, and very little is known about TAND in adults. We explored baseline TAND data from the large-scale international TOSCA natural history study to compare childhood and adult patterns, describe age-based patterns, and explore genotype-TAND correlations.

Results: The study enrolled 2216 eligible participants with TSC from 170 sites across 31 countries at the data cut-off for the third interim analysis (data cut-off date: September 30, 2015). Read More

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http://dx.doi.org/10.1186/s13023-018-0901-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131901PMC
September 2018
7 Reads

A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.

J Mol Neurosci 2018 Oct 5;66(2):273-278. Epub 2018 Sep 5.

Laboratoire de Recherche en Neurogénétique, Maladie de Parkinson et Maladies Cérébro-Vasculaires (LR-12-SP-19), Habib Bourguiba University Hospital, 3029, Sfax, Tunisia.

Mutations in SYNJ1 gene have been described in few families with juvenile atypical Parkinson disease (PD). This gene encodes for "Synaptojanin 1," an enzyme playing a major role in the phosphorylation and the recycling of synaptic vesicles. In this study, we report two siblings, from a consanguineous Tunisian family, presenting juvenile PD. Read More

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http://dx.doi.org/10.1007/s12031-018-1167-2DOI Listing
October 2018
6 Reads

[Clinical phenotypes of TBC1D24 gene related epilepsy].

Zhonghua Er Ke Za Zhi 2018 Sep;56(9):667-673

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

To summarize the clinical features of TBC1D24 gene mutations associated with epilepsy. All the patients with TBC1D24 gene compound heterozygous mutations were retrospectively collected at the Pediatric Department of Peking University First Hospital from March 2015 to July 2017, and the features of clinical manifestations, electroencephalogram, and neuroimaging were analyzed. Eighteen cases with TBC1D24 gene compound heterozygous mutations were included. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2018.09.007DOI Listing
September 2018
1 Read

Trend of subsequent epilepsy in children with recurrent febrile seizures: A retrospective matched cohort study.

Seizure 2018 Oct 27;61:164-169. Epub 2018 Aug 27.

Children's Hospital, China Medical University Hospital, Taichung, Taiwan; College of Medicine, China Medical University, Taichung, Taiwan. Electronic address:

Purpose: Trends of epilepsy in children were correlated with febrile seizure (FS) in a previous retrospective study. In the present study, the authors obtained relevant data from a nationwide cohort database to investigate trends in subsequent epilepsy in children with a history of recurrent FS.

Methods: A total of 10,210 children with FS comprised the cohort. Read More

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http://dx.doi.org/10.1016/j.seizure.2018.08.019DOI Listing
October 2018
1 Read

Models of Network Spread and Network Degeneration in Brain Disorders.

Biol Psychiatry Cogn Neurosci Neuroimaging 2018 Sep 3;3(9):788-797. Epub 2018 Aug 3.

Department of Radiology, Weill Cornell Medicine, New York, New York.

Network analysis can provide insight into key organizational principles of brain structure and help identify structural changes associated with brain disease. Though static differences between diseased and healthy networks are well characterized, the study of network dynamics, or how brain networks change over time, is increasingly central to understanding ongoing brain changes throughout disease. Accordingly, we present a short review of network models of spread, network dynamics, and network degeneration. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S24519022183018
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http://dx.doi.org/10.1016/j.bpsc.2018.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219468PMC
September 2018
7 Reads

Investigation of the Video-EEG Findings and Clinical Data in Patients Diagnosed With Epilepsy and Psychosis.

Neurologist 2018 Sep;23(5):167-174

Departments of Neurology and Clinical Neurophysiology.

Background: Studies on electrophysiological characteristics of patients with epilepsy and concomitant psychosis are limited. We aimed to investigate the clinical and video-electroencephalography (EEG) findings of patients with epilepsy-related psychosis (EP).

Materials And Methods: Fifteen patients diagnosed with EP, assessed at the video-EEG monitoring unit and were under follow-up at both epilepsy and psychiatry clinics, were included. Read More

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http://dx.doi.org/10.1097/NRL.0000000000000195DOI Listing
September 2018
12 Reads

Challenging behavior in adults with epilepsy and intellectual disability: An analysis of epilepsy characteristics.

Epilepsy Behav 2018 Sep 6;86:72-78. Epub 2018 Jul 6.

Department of Behavioral Sciences, Kempenhaeghe Epilepsy Center, PO Box 61, 5590AB Heeze, the Netherlands; Department of Neurology, Maastricht University Medical Center, PO Box 616, 6200MD, Maastricht, the Netherlands; Center of Neurological Learning Disabilities Kempenhaeghe, PO Box 61, 5590AB Heeze, the Netherlands.

Purpose: The study aimed to describe the frequency and severity of self-injurious, stereotyped, and aggressive/destructive behavior in adults with both epilepsy and intellectual disability (ID) who reside at a tertiary epilepsy center and to investigate the associations between challenging behavior and epilepsy and ID characteristics.

Method: The frequency and severity of self-injurious, (motoric) stereotyped, and aggressive/destructive behavior among 189 patients was assessed using the Behavior Problem Inventory. Comparisons were made with an adult reference population with ID, based on gender, to determine whether the behavior was clinically deviant. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183031
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http://dx.doi.org/10.1016/j.yebeh.2018.06.028DOI Listing
September 2018
9 Reads

Major Congenital Malformations Associated With Exposure to Antiepileptic Drugs During Pregnancy.

J Clin Psychiatry 2018 Jul 17;79(4). Epub 2018 Jul 17.

Department of Psychopharmacology, National Institute of Mental Health and Neurosciences, Bangalore, India.

Antiepileptic drugs (AEDs) are prescribed for approved and off-label indications that include epilepsy, bipolar disorder, and other neurologic and psychiatric disorders. The risk of major congenital malformations (MCMs) following gestational exposure to AEDs, particularly exposure at the time of conception and early trimester exposure, has been examined in many studies. This risk has been compared with the risk in unexposed general population controls as well as in untreated controls with the same treatment indication, and this risk has been compared pairwise among the AEDs. Read More

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http://dx.doi.org/10.4088/JCP.18f12449DOI Listing
July 2018
15 Reads

Rare gene deletions in genetic generalized and Rolandic epilepsies.

PLoS One 2018 27;13(8):e0202022. Epub 2018 Aug 27.

Cologne Center for Genomics, University of Cologne, Cologne, Germany.

Genetic Generalized Epilepsy (GGE) and benign epilepsy with centro-temporal spikes or Rolandic Epilepsy (RE) are common forms of genetic epilepsies. Rare copy number variants have been recognized as important risk factors in brain disorders. We performed a systematic survey of rare deletions affecting protein-coding genes derived from exome data of patients with common forms of genetic epilepsies. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0202022PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110470PMC
August 2018
12 Reads

Clinical Phenotypes Associated to Engrailed 2 Gene Alterations in a Series of Neuropediatric Patients.

Front Neuroanat 2018 10;12:61. Epub 2018 Aug 10.

Neuroscience Institute UMH-CSIC, CIBERSAM-ISCIII, Alicante, Spain.

The engrailed homeobox protein (EN) plays an important role in the regionalization of the neural tube. EN distribution regulates the cerebellum and midbrain morphogenesis, as well as retinotectal synaptogenesis. In humans, the and genes code for the EN family of transcription factors. Read More

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http://dx.doi.org/10.3389/fnana.2018.00061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095973PMC
August 2018
2 Reads

Psychiatric comorbidity and traumatic brain injury attribution in patients with psychogenic nonepileptic or epileptic seizures: A multicenter study of US veterans.

Epilepsia 2018 Oct 24;59(10):1945-1953. Epub 2018 Aug 24.

VA Portland Health Care System, Portland, Oregon.

Objective: To determine the frequency and severity of psychiatric disorders and attribution of seizures to traumatic brain injury (TBI) in veterans with verified psychogenic nonepileptic seizures (PNES) versus epileptic seizures (ES).

Methods: We studied 333 consecutive admissions to the monitoring units of three Veterans Administration epilepsy centers. All patients underwent continuous video-electroencephalographic recording to define definite PNES or ES. Read More

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http://dx.doi.org/10.1111/epi.14542DOI Listing
October 2018
3 Reads

[The problem of aggressive behavior in epilepsy: clinical and neurobiological aspects].

Zh Nevrol Psikhiatr Im S S Korsakova 2018;118(7):94-100

Kuvatov Republican Clinical Hospital, Ufa, Russia; Kazan State Medical University, Kazan, Russia.

Aggressive behavior is observed in a significant number of patients with epilepsy. The aggressive behavior is associated with structural and functional changes in the amygdala, orbitofrontal cortex and striatum. From the clinical point of view, aggressive behavior more often is not related to the seizure, and develops as part of borderline psychiatric disorder. Read More

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http://dx.doi.org/10.17116/jnevro20181187194DOI Listing
January 2018
14 Reads

Antidepressants in epilepsy.

Neurol Neurochir Pol 2018 Nov - Dec;52(6):657-661. Epub 2018 Aug 11.

Department of Psychiatry, Faculty of Medicine, Medical University of Gdańsk, Gdańsk, Poland.

People with epilepsy (PWE) frequently suffer from comorbid mood and anxiety disorders. Depression is one of the major psychiatric comorbidities having a negative impact on the quality of life in people with epilepsy. A review of the literature indicates that the majority of antidepressant-related seizures have been associated with either ultra-high doses or overdosing and, generally, the risk of antidepressant-associated seizures is low. Read More

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http://dx.doi.org/10.1016/j.pjnns.2018.07.005DOI Listing
August 2018
1 Read

Return of individual results in epilepsy genomic research: A view from the field.

Epilepsia 2018 Sep 10;59(9):1635-1642. Epub 2018 Aug 10.

Department of Neurology, University of California, San Francisco, San Francisco, California.

Genomic findings are emerging rapidly in 2 large, closely related epilepsy research consortia: the Epilepsy Phenome/Genome Project and Epi4K. Disclosure of individual results to participants in genomic research is increasingly viewed as an ethical obligation, but strategies for return of results were not included in the design of these consortia, raising complexities in establishing criteria for which results to offer, determining participant preferences, managing the large number of sites involved, and covering associated costs. Here, we describe the challenges faced, alternative approaches considered, and progress to date. Read More

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http://dx.doi.org/10.1111/epi.14530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119474PMC
September 2018

[Neuropsychiatric manifestations in Tuberous Sclerosis Complex (TSC): diagnostic guidelines, TAND concept and therapy with mTOR inhibitors].

Z Kinder Jugendpsychiatr Psychother 2018 Aug 6:1-14. Epub 2018 Aug 6.

3 Abteilung für Kinder- und Jugendpsychiatrie, Universität Kapstadt, Südafrika.

Neuropsychiatric manifestations in Tuberous Sclerosis Complex (TSC): diagnostic guidelines, TAND concept and therapy with mTOR inhibitors Abstract. Tuberous sclerosis complex (TSC), albeit a rare autosomal-dominant multisystem disease with an incidence of 1:6,000, is one of the most important monogenetic disorders in child and adolescent psychiatry. In up to 90 % of patients, neurological disorders such as epilepsy and psychiatric disorders such as autism spectrum disorder, ADHD, affective disorders, and intellectual disability are observed. Read More

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https://econtent.hogrefe.com/doi/10.1024/1422-4917/a000604
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http://dx.doi.org/10.1024/1422-4917/a000604DOI Listing
August 2018
3 Reads

Increased risk of hospital admission for mood disorders following admission for epilepsy.

Neurology 2018 Aug 1;91(9):e800-e810. Epub 2018 Aug 1.

From the Departments of Psychiatry (A.M.K., K.H.) and Neurology (K.C.R., N.J., J.Y.Y., M.S.D.), Icahn School of Medicine at Mount Sinai, New York, NY.

Objective: To determine if epilepsy admissions, compared to admissions for other medical causes, are associated with a higher readmission risk for mood disorders.

Methods: The Nationwide Readmissions Database is a nationally representative dataset comprising 49% of US hospitalizations in 2013. In this retrospective cohort study, we used ICD-9-CM codes to identify medical conditions. Read More

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http://dx.doi.org/10.1212/01.wnl.0000542492.00605.9dDOI Listing
August 2018
4 Reads

Seizure incidence in the acute postneurosurgical period diagnosed using continuous electroencephalography.

J Neurosurg 2018 Jun 1:1-7. Epub 2018 Jun 1.

Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland.

OBJECTIVE Delay in diagnosis and subsequent treatment of nonconvulsive seizures can lead to worsened outcomes. The gold standard in detecting nonconvulsive seizures is continuous video-electroencephalography (cEEG). Compared to routine, 30-minute EEG, the use of cEEG increases the likelihood of capturing intermittent nonconvulsive seizures. Read More

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http://dx.doi.org/10.3171/2018.1.JNS171466DOI Listing
June 2018
2 Reads

Psychiatric Symptoms in Refractory Epilepsy During the First Year After Surgery.

Neurotherapeutics 2018 Oct;15(4):1082-1092

Clinical Institute of Neurosciences, Hospital Clinic of Barcelona, Barcelona, 08036, Spain.

Psychiatric morbidity in drug-resistant epilepsy is frequent. Surgery is the best therapeutic alternative for treating seizures, but the current evidence concerning the effects of surgery on psychiatric disorders (PDs) is inconclusive. We aim to clarify surgery's role in long-term PDs. Read More

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http://dx.doi.org/10.1007/s13311-018-0652-1DOI Listing
October 2018
2 Reads

mTOR-Related Brain Dysfunctions in Neuropsychiatric Disorders.

Int J Mol Sci 2018 Jul 30;19(8). Epub 2018 Jul 30.

Human Anatomy, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Via Roma 55, 56126 Pisa, Italy.

The mammalian target of rapamycin (mTOR) is an ubiquitously expressed serine-threonine kinase, which senses and integrates several intracellular and environmental cues to orchestrate major processes such as cell growth and metabolism. Altered mTOR signalling is associated with brain malformation and neurological disorders. Emerging evidence indicates that even subtle defects in the mTOR pathway may produce severe effects, which are evident as neurological and psychiatric disorders. Read More

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http://dx.doi.org/10.3390/ijms19082226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121884PMC

Affective, neurocognitive and psychosocial disorders associated with traumatic brain injury and post-traumatic epilepsy.

Neurobiol Dis 2018 Jul 27. Epub 2018 Jul 27.

Department of Neuroscience, Monash University, 99 Commercial Road, Melbourne, VIC, Australia; Department of Medicine (Royal Melbourne Hospital), The University of Melbourne, Royal Parade, Parkville, VIC, Australia. Electronic address:

Survivors of traumatic brain injury (TBI) often develop chronic neurological, neurocognitive, psychological, and psychosocial deficits that can have a profound impact on an individual's wellbeing and quality of life. TBI is also a common cause of acquired epilepsy, which is itself associated with significant behavioral morbidity. This review considers the clinical and preclinical evidence that post-traumatic epilepsy (PTE) acts as a 'second-hit' insult to worsen chronic behavioral outcomes for brain-injured patients, across the domains of emotional, cognitive, and psychosocial functioning. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09699961183028
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http://dx.doi.org/10.1016/j.nbd.2018.07.018DOI Listing
July 2018
10 Reads

Maternal recurrent pregnancy loss is associated with an increased risk for long-term neurological morbidity in offspring.

Dev Med Child Neurol 2019 Jan 29;61(1):91-97. Epub 2018 Jul 29.

Department of Obstetrics and Gynecology, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Aim: To determine whether maternal history of recurrent pregnancy loss (RPL) impacts on the long-term neurological health of the offspring.

Method: A population-based cohort analysis was performed, including all singletons born between 1991 and 2014 at a single regional tertiary centre. Neurological morbidity up to age 18 years (including cognitive, motor, and psychiatric disorders) in children born to mothers with and without a history of RPL was compared. Read More

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http://dx.doi.org/10.1111/dmcn.13976DOI Listing
January 2019
1 Read
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