5,690 results match your criteria Psychiatric Disorders Associated With Epilepsy


Reelin Functions, Mechanisms of Action and Signaling Pathways During Brain Development and Maturation.

Authors:
Yves Jossin

Biomolecules 2020 Jun 26;10(6). Epub 2020 Jun 26.

Laboratory of Mammalian Development & Cell Biology, Institute of Neuroscience, Université Catholique de Louvain, 1200 Brussels, Belgium.

During embryonic development and adulthood, Reelin exerts several important functions in the brain including the regulation of neuronal migration, dendritic growth and branching, dendritic spine formation, synaptogenesis and synaptic plasticity. As a consequence, the Reelin signaling pathway has been associated with several human brain disorders such as lissencephaly, autism, schizophrenia, bipolar disorder, depression, mental retardation, Alzheimer's disease and epilepsy. Several elements of the signaling pathway are known. Read More

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http://dx.doi.org/10.3390/biom10060964DOI Listing

Clinical and electroencephalographic features of benign childhood epilepsy with centrotemporal spikes comorbidity with attention-deficit hyperactivity disorder in Southwest China.

Epilepsy Behav 2020 Jun 27;111:107240. Epub 2020 Jun 27.

Department of Neurology, West China Hospital, Sichuan University, Wai Nan Guo Xue Lane 37#, Chengdu, Sichuan 610041, China. Electronic address:

Purpose: This study was conducted to analyze the clinical and electroencephalographic (EEG) features of attention-deficit hyperactivity disorder (ADHD) in children with benign partial epilepsy with centrotemporal spikes (BECTS) in Southwest China, to address the question of what the risk factors are for patients with BECTS who suffer from ADHD.

Methods: Overall 118 right-handed children with BECTS were included from two medical centers. Of them, 29 patients were with diagnosed ADHD according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) at baseline, and the remaining were considered as typical BECTS. Read More

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http://dx.doi.org/10.1016/j.yebeh.2020.107240DOI Listing

Epilepsy and Neuroscience: Evolution and Interaction.

Front Neuroanat 2020 12;14:25. Epub 2020 Jun 12.

Department of Clinical Neurosciences, King's College, London, United Kingdom.

Neuroscience is a relatively new and fashionable word that emerged in the 1950s in several countries, including the UK, to describe a multidisciplinary clinical and laboratory approach to the study of the brain, mind, and neuropsychiatric disorders. However collaborative study of neurological and psychiatric disorders can be traced to the 17th century with roots in antiquity. I describe the evolution of our understanding of epilepsy beginning with the first detailed clinical descriptions, associated with supernatural theories, in Babylonian medicine in the second millennium BC. Read More

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http://dx.doi.org/10.3389/fnana.2020.00025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304406PMC

[Interictal psychosis of epilepsy].

Encephale 2020 Jun 25. Epub 2020 Jun 25.

Service de neurologie, CHRU Nancy, 54000 Nancy, France; Pôle universitaire de psychiatrie du grand Nancy, CPN, 54520 Laxou, France.

Interictal psychosis (IIP) refers to psychosis that occurs in clear consciousness in persons with epilepsy (PWE) with temporal onset not during or immediately following a seizure. The pooled prevalence estimate of psychosis in PWE is 5.6%. Read More

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http://dx.doi.org/10.1016/j.encep.2020.04.014DOI Listing

Anxiolytic-like effects of Moringa oleifera in Swiss mice.

Cell Mol Biol (Noisy-le-grand) 2020 Jun 25;66(4):73-77. Epub 2020 Jun 25.

Phytochemistry Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Moringa oleifera is evident to act against many neurological diseases, including muscle spasm, epilepsy, nervousness, fatigue, memory impairment, convulsion, and epilepsy. Anxiety represents the most common and disabling psychiatric condition, being often associated with depressive symptoms. This study investigated the anxiolytic-like effects of crude organic fractions of M. Read More

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June 2020
1.234 Impact Factor

Topoisomerase 3β knockout mice show transcriptional and behavioural impairments associated with neurogenesis and synaptic plasticity.

Nat Commun 2020 Jun 19;11(1):3143. Epub 2020 Jun 19.

Laboratory of Genetics and Genomics, National Institute on Aging, National Institutes of Health, Baltimore, MD, 21224, USA.

Topoisomerase 3β (Top3β) is the only dual-activity topoisomerase in animals that can change topology for both DNA and RNA, and facilitate transcription on DNA and translation on mRNAs. Top3β mutations have been linked to schizophrenia, autism, epilepsy, and cognitive impairment. Here we show that Top3β knockout mice exhibit behavioural phenotypes related to psychiatric disorders and cognitive impairment. Read More

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http://dx.doi.org/10.1038/s41467-020-16884-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305123PMC

Behavioral phenotypes of childhood idiopathic epilepsies.

Epilepsia 2020 Jun 18. Epub 2020 Jun 18.

Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

Objective: To characterize the presence and nature of discrete behavioral phenotypes and their correlates in a cohort of youth with new and recent onset focal and generalized epilepsies.

Methods: The parents of 290 youth (age = 8-18 years) with epilepsy (n = 183) and typically developing participants (n = 107) completed the Child Behavior Checklist for children aged 6-18 from the Achenbach System of Empirically Based Assessment. The eight behavior problem scales were subjected to hierarchical clustering analytics to identify behavioral subgroups. Read More

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http://dx.doi.org/10.1111/epi.16569DOI Listing

A modulator of the low-voltage activated T-type calcium channel that reverses HIV glycoprotein 120-, paclitaxel-, and spinal nerve ligation-induced peripheral neuropathies.

Pain 2020 Jun 10. Epub 2020 Jun 10.

Department of Pharmacology, College of Medicine, The University of Arizona, Tucson, Arizona, 85721, United States.

The voltage-gated calcium channels CaV3.1-3.3 constitute the T-type subfamily, whose dysfunctions are associated with epilepsy, psychiatric disorders, and chronic pain. Read More

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http://dx.doi.org/10.1097/j.pain.0000000000001955DOI Listing
June 2020
5.213 Impact Factor

Increased Oxidative Stress Toxicity and Lowered Antioxidant Defenses in Temporal Lobe Epilepsy and Mesial Temporal Sclerosis: Associations with Psychiatric Comorbidities.

Mol Neurobiol 2020 Jun 9. Epub 2020 Jun 9.

Department of Psychiatry, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

Oxidative stress toxicity (OSTOX), as well as lowered antioxidant defenses (ANTIOX), plays a role in temporal lobe epilepsy (TLE). Nevertheless, the associations between OSTOX/ANTIOX and psychiatric comorbidities in TLE are largely unknown. Thus, this study examines plasma malondialdehyde (MDA), lipid hydroperoxides (LOOH), advanced oxidation protein products (AOPP), nitric oxide metabolites (NO), total radical-trapping antioxidant parameter (TRAP), and sulfhydryl (-SH) groups in depression due to TLE (n = 25); anxiety disorders due to TLE (n = 27); psychotic disorder due to TLE (n = 25); "pure TLE" (n = 27); and healthy controls (n = 40). Read More

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http://dx.doi.org/10.1007/s12035-020-01949-8DOI Listing
June 2020
5.137 Impact Factor

Risk of early neurodevelopmental outcomes associated with prenatal exposure to the antiepileptic drugs most commonly used during pregnancy: a French nationwide population-based cohort study.

BMJ Open 2020 Jun 7;10(6):e034829. Epub 2020 Jun 7.

Department of Epidemiology of Health Products, French National Agency for Medicines and Health Products Safety, Saint-Denis, France.

Objectives: To assess the association between prenatal exposure to monotherapy with the antiepileptic drugs (AEDs) most commonly used during pregnancy and the risk of various neurodevelopmental outcomes compared with lamotrigine.

Design: Nationwide population-based cohort study.

Setting: French national healthcare databases. Read More

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http://dx.doi.org/10.1136/bmjopen-2019-034829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7282331PMC

Modulatory Effect of Serotonergic System in Pentylenetetrazole-Induced Seizures and Associated Memory Deficit: Role of 5-HT and 5-HT.

J Epilepsy Res 2019 Dec 31;9(2):119-125. Epub 2019 Dec 31.

Department of Pharmaceutical Sciences and Drug Research, Punjabi University, Patiala, India.

Background And Purpose: Recent studies have recognised the memory deficit as one of the most common psychiatric issues in the patients with epilepsy, which severely affects the quality of life. Our previous studies have demonstrated the possible involvement of serotonergic system in the pathogenesis of epilepsy and associated memory deficit. The possible involvement of 5-HT and 5-HT receptor has not been explored yet. Read More

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http://dx.doi.org/10.14581/jer.19012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251343PMC
December 2019

Factors Affecting Cognition and Depression in Adult Patients with Epilepsy.

J Epilepsy Res 2019 Dec 31;9(2):103-110. Epub 2019 Dec 31.

Department of Neurology, University of Florida, Gainesville, FL, USA.

Background And Purpose: Epilepsy patients are more likely to experience depressive symptoms and cognitive impairment compared to individuals in the general population. As the reasons for this are not definitively known, we sought to determine what factors correlate most strongly with cognition and a screening test for depression in epilepsy patients.

Methods: Our study population included 379 adult patients diagnosed with epilepsy or seizure in our neurology clinic. Read More

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http://dx.doi.org/10.14581/jer.19018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251347PMC
December 2019

Comorbidities of epilepsy in low and middle-income countries: systematic review and meta-analysis.

Sci Rep 2020 Jun 2;10(1):9015. Epub 2020 Jun 2.

Department of family medicine, Chung-Kang Branch, Cheng Ching hospital, Taiwan No.966.sec. 4, Taiwan Blvd. Xitun Dist., Taichung, Taiwan, ROC.

Epilepsy is a major public health concern in low and middle-income countries (LMICs) and comorbidities aggravate the burden associated with the disease. The epidemiology of these comorbidities has not been well described, although, identifying the main comorbidities of epilepsy, and their relative importance, is crucial for improving the quality of care. Comorbidities were defined as disorders coexisting with or preceding epilepsy, or else compounded or directly attributed to epilepsy or to its treatment. Read More

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http://dx.doi.org/10.1038/s41598-020-65768-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7265529PMC

[Pregabalin and risk of addiction: A new care issue?]

Authors:
S Roche M Blaise

Encephale 2020 May 26. Epub 2020 May 26.

Centre médical Marmottan, 17-19, rue d'Armaillé, 75017 Paris, France.

Purpose: Pregabalin (PRG) is a gamma-aminobutyric acid (GABA) analogue used for treatment of epilepsy, neuropathic pain, generalised anxiety disorder and currently being studied for other indications. Supported by the results of case studies and a limited number of studies, there is an ongoing debate about the addictive potential of PRG. However, evidence is scarce and no definitive assessment on the potential for abuse and dependence to PRG is available. Read More

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http://dx.doi.org/10.1016/j.encep.2020.02.008DOI Listing

Electroencephalogram alterations associated with psychiatric disorders in temporal lobe epilepsy with mesial sclerosis: A systematic review.

Epilepsy Behav 2020 Jul 26;108:107100. Epub 2020 May 26.

Departament of Psychiatry and Medical Psychology, Faculdade de Medicina de Sao Jose do Rio Preto (FAMERP), Brazil.

Temporal lobe epilepsy (TLE) is the most frequent focal epilepsy in adults and has been associated with psychiatric disorders (PD), especially the TLE with mesial temporal sclerosis (MTS). Electroencephalogram (EEG) could help in locating the epileptogenic zone and supply information regarding cerebral electric activity in these patients. However, there is a scarcity of knowledge about the association between EEG findings and comorbid PD in TLE. Read More

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http://dx.doi.org/10.1016/j.yebeh.2020.107100DOI Listing

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

Epilepsia 2020 May 29;61(5):995-1007. Epub 2020 May 29.

Evelina London Children's Hospital, London, UK.

Objective: We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE).

Methods: We deeply phenotyped MAE patients for epilepsy features, intellectual disability, autism spectrum disorder, and attention-deficit/hyperactivity disorder using standardized neuropsychological instruments. We performed exome analysis (whole exome sequencing) filtered on epilepsy and neuropsychiatric gene sets to identify genetic etiologies. Read More

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http://dx.doi.org/10.1111/epi.16508DOI Listing

The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.

Orphanet J Rare Dis 2020 May 28;15(1):129. Epub 2020 May 28.

Department of Pediatrics, XiangYa Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan Province, China.

Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies associated with a wide range of additional features (hypotonia, hearing loss, elevated alkaline phosphatase, and several other features). Glycosylphosphatidylinositol functions as an anchor to link cell membranes and protein. These proteins function as enzymes, adhesion molecules, complement regulators, or co-receptors in signal transduction pathways. Read More

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http://dx.doi.org/10.1186/s13023-020-01401-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254680PMC

Mental disorders in patients with epilepsy.

Psychiatr Pol 2020 Feb 29;54(1):51-68. Epub 2020 Feb 29.

Uniwersytet Medyczny we Wrocławiu, Katedra i Klinika Neurologii.

Mental disorders occur in patients with epilepsy significantly more frequently than in the general population or in those with other chronic diseases. The specificity of epilepsy as a condition of the central nervous system with complex somatic, psychic and social consequences contributes to co-occurrence of these disorders. Moreover, common patomechanisms are suggested for epilepsy and mental disorders, associated with disturbances of bioelectrical activity and neurotransmission in certain areas of the brain. Read More

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http://dx.doi.org/10.12740/PP/93886DOI Listing
February 2020

Preconception Risk Factors for Autism Spectrum Disorder - A Pilot Study.

Brain Sci 2020 05 14;10(5). Epub 2020 May 14.

Department of Pediatric Neurology, Faculty of Medical Science in Katowice, Medical University of Silesia, 42-600 Katowice, Poland.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder of multifactorial etiology. Preconception risk factors are still poorly understood. A survey on preconception risk factors for ASD was conducted among parents of 121 ASD patients aged 3-12 years and parents of 100 healthy children aged 3-12 years. Read More

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http://dx.doi.org/10.3390/brainsci10050293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288185PMC

Social cognition in epilepsy: State of the art and perspectives.

Rev Neurol (Paris) 2020 Jun 14;176(6):468-479. Epub 2020 May 14.

U1171 degenerative and vascular cognitive disorders, Inserm, epilepsy unit, reference center rare epilepsies, CHU Lille, university Lille, Lille, France.

Introduction: The neuropsychology of epilepsy has been a major area of study for almost a century and cognitive impairments are an integral part of the new definition of epilepsy. Among such impairments, social cognition (SC) dysfunctions are of relatively recent interest. SC abilities refer to the body of knowledge and processes involved in establishing satisfying and appropriate social interactions. Read More

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http://dx.doi.org/10.1016/j.neurol.2020.02.010DOI Listing

Long-Term Effects of Intrauterine Exposure to Antidepressants on Physical, Neurodevelopmental, and Psychiatric Outcomes: A Systematic Review.

J Clin Psychiatry 2020 May 12;81(3). Epub 2020 May 12.

Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Objective: Reviews on child outcomes following in utero antidepressant exposure have focused on short-term outcomes. However, several recent individual studies reported on adverse physical, neurodevelopmental, and psychiatric outcomes beyond infancy and early childhood. The objective of this systematic review was to establish the long-term effects of prenatal antidepressant exposure on physical, neurodevelopmental, and psychiatric outcomes in individuals aged 4 years and older. Read More

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http://dx.doi.org/10.4088/JCP.19r12965DOI Listing

Assistive products and childhood neurodisability: a retrospective study on factors associated with aids/orthoses prescription.

Eur J Phys Rehabil Med 2020 May 14. Epub 2020 May 14.

Department of Pediatric Neurorehabilitation, Scientific Institute for Research and Health Care Santa Lucia Foundation, Rome, Italy.

Background: Children affected by pathologies causing neurodisability go through motor, cognitive, sensory and other limitations. The selection of assistive products can influence their level of independence and quality of life.

Aim: The present study investigated the possibility to assess the equipment needs of children with neurodisabilities, based on their clinical characteristics. Read More

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http://dx.doi.org/10.23736/S1973-9087.20.06224-3DOI Listing

Pathogenesis of cerebral toxocariasis and neurodegenerative diseases.

Authors:
Chia-Kwung Fan

Adv Parasitol 2020 5;109:233-259. Epub 2020 Feb 5.

Department of Molecular Parasitology and Tropical Diseases, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan; Research Center of International Tropical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan; Tropical Medicine Division, International PhD Program in Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan. Electronic address:

Toxocara canis belongs to one of zoonotic parasites that commonly infects canines worldwide, and its eggs in host faeces may contaminate the food, water, soil and their fur as well as the larvae entrapped in the granuloma can infect paratenic hosts including mice and humans. Survivability of T. canis embryonated eggs under moist, cool conditions may be as long as 2-4 years or more. Read More

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http://dx.doi.org/10.1016/bs.apar.2020.01.008DOI Listing
February 2020

A structural brain network of genetic vulnerability to psychiatric illness.

Mol Psychiatry 2020 May 6. Epub 2020 May 6.

Department of Psychiatry, University of Oxford, Oxford, UK.

Psychiatry is undergoing a paradigm shift from the acceptance of distinct diagnoses to a representation of psychiatric illness that crosses diagnostic boundaries. How this transition is supported by a shared neurobiology remains largely unknown. In this study, we first identify single nucleotide polymorphisms (SNPs) associated with psychiatric disorders based on 136 genome-wide association studies. Read More

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http://dx.doi.org/10.1038/s41380-020-0723-7DOI Listing

Hereditary Parkinson’s disease as a new clinical manifestation of the damaged POLG gene

Orv Hetil 2020 05 1;161(20):821-828. Epub 2020 May 1.

Semmelweis Egyetem, Budapest, Üllői út 78., 1083.

The protein product of the nuclear-encoded POLG gene plays a key role in the maintenance of mitochondrial DNA replication, and its failure causes multi-system diseases with varying severity. The clinical spectrum is extremely wide, and the most common symptoms include ptosis, myoclonus, epilepsy, myopathy, sensory ataxia, parkinsonism, cognitive decline and infertility. Now, it is known that mitochondrial dysfunction in Parkinson's disease plays a key role in the loss of dopaminergic neurons in the substantia nigra. Read More

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http://dx.doi.org/10.1556/650.2020.31724DOI Listing

Bipolar Spectrum Disorder May Be Associated With Family History of Diseases.

J Clin Med Res 2020 Apr 30;12(4):251-254. Epub 2020 Mar 30.

Uskudar University, NPIstanbul Brain Hospital, Istanbul, Turkey.

Background: This study aims at investigating into the presence of family history of diabetes, ischemic heart disease, thyroid disease, cancer, cerebrovascular disease, and epilepsy in bipolar patients.

Methods: Totally 1,148 patients admitted to our outpatient unit between January 2018 and January 2020, who were diagnosed with bipolar disorder according to Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-V), from whom informed consent was obtained, were cross-sectionally and consecutively evaluated. Each patient was questioned regarding a family history of diabetes, ischemic heart disease, thyroid disease, cancer (gastrointestinal, breast and prostate cancer, leukemia, and lymphoma), cerebrovascular disease and epilepsy in first- and second-degree relatives. Read More

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http://dx.doi.org/10.14740/jocmr4143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7188371PMC

Trends in documented cannabis use disorder among hospitalized adult epilepsy patients in the United States.

Epilepsy Res 2020 Jul 18;163:106341. Epub 2020 Apr 18.

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

Objective: Patients with epilepsy are at increased risk for mental health and substance abuse disorders. Given ongoing contemporary societal controversies about medicinal and recreational cannabis use, we aimed to ascertain recent nationwide prevalence, trends, and psychiatric diagnoses associated with cannabis use disorders (CUD) among epilepsy patients.

Methods: We interrogated the National Inpatient Sample database comprising a total of 398,936 adults (aged 18 years and above) with epilepsy between the years 2006 and 2014, identified using the International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) codes 780. Read More

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http://dx.doi.org/10.1016/j.eplepsyres.2020.106341DOI Listing

Two-weeks treatment with cannabidiol improves biophysical and behavioral deficits associated with experimental type-1 diabetes.

Neurosci Lett 2020 Jun 1;729:135020. Epub 2020 May 1.

Department of Pharmacology, Biological Science Sector, Federal University of Paraná, Curitiba, Paraná, Brazil; Institute of Neurosciences and Behavior (INeC), University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil. Electronic address:

The prevalence rates of depression and anxiety are at least two times higher in diabetic patients, increasing morbidity and mortality. Cannabidiol (CBD) has been identified as a therapeutic agent viable to treat diverse psychiatric disorders. Thus, this study aimed to investigate the effect of CBD treatment (once a day for 14 days starting two weeks after diabetes induction; at doses of 0, 3, 10 or 30 mg/kg, i. Read More

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http://dx.doi.org/10.1016/j.neulet.2020.135020DOI Listing

Factors associated with subjective cognitive function in epilepsy and psychogenic non-epileptic seizures.

Epilepsy Res 2020 Jul 19;163:106342. Epub 2020 Apr 19.

Department of Neurology, The Royal Melbourne Hospital, Parkville, Australia; Department of Neurosciences, Alfred Health, Prahran, Australia; Central Clinical School, Monash University, Melbourne, Australia.

Objective: To identify factors associated with subjective cognitive complaints in people with presumed seizure disorders referred for video electroencephalogram monitoring (VEM).

Methods: Adult patients admitted for inpatient VEM were recruited. Objective cognitive function was measured with the Neuropsychiatry Unit Cognitive Screening Tool, subjective cognitive function with the Quality of Life in Epilepsy Inventory-89 subscales, and anxiety and depressive symptoms with the Hospital Anxiety and Depression Scale. Read More

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http://dx.doi.org/10.1016/j.eplepsyres.2020.106342DOI Listing

CBD modulates DNA methylation in the prefrontal cortex and hippocampus of mice exposed to forced swim.

Behav Brain Res 2020 Jun 26;388:112627. Epub 2020 Apr 26.

Center for Interdisciplinary Research on Applied Neurosciences (NAPNA), University of São Paulo, Brazil; Department of Biomolecular Sciences, School of Pharmaceutical Sciences of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil; Aarhus Institute of Advanced Studies (AIAS), Aarhus University, Aarhus, Denmark. Electronic address:

Cannabidiol (CBD), a non-psychotomimetic component of Cannabis sativa plant, shows therapeutic potential in psychiatric disorders, including depression. The molecular mechanisms underlying the antidepressant-like effects of CBD are not yet understood. Previous studies in differentiated skin cells demonstrated that CBD regulates DNA methylation, an overall repressive epigenetic mechanism. Read More

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http://dx.doi.org/10.1016/j.bbr.2020.112627DOI Listing

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Mol Psychiatry 2020 Apr 28. Epub 2020 Apr 28.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

Defects in histone methyltransferases (HMTs) are major contributing factors in neurodevelopmental disorders (NDDs). Heterozygous variants of SETD1A involved in histone H3 lysine 4 (H3K4) methylation were previously identified in individuals with schizophrenia. Here, we define the clinical features of the Mendelian syndrome associated with haploinsufficiency of SETD1A by investigating 15 predominantly pediatric individuals who all have de novo SETD1A variants. Read More

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http://dx.doi.org/10.1038/s41380-020-0725-5DOI Listing
April 2020
14.496 Impact Factor

Pleiotropy of polygenic factors associated with focal and generalized epilepsy in the general population.

PLoS One 2020 28;15(4):e0232292. Epub 2020 Apr 28.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, United States of America.

Epilepsy is clinically heterogeneous, and neurological or psychiatric comorbidities are frequently observed in patients. It has not been tested whether common risk variants for generalized or focal epilepsy are enriched in people with other disorders or traits related to brain or cognitive function. Here, we perform two brain-focused phenome association studies of polygenic risk scores (PRS) for generalized epilepsy (GE-PRS) or focal epilepsy (FE-PRS) with all binary brain or cognitive function-related traits available for 334,310 European-ancestry individuals of the UK Biobank. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0232292PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7188256PMC

Spinocerebellar ataxia type 48: last but not least.

Neurol Sci 2020 Apr 27. Epub 2020 Apr 27.

IRCCS Fondazione Stella Maris, Pisa, Italy.

Introduction: Biallelic mutations in STUB1, which encodes the E3 ubiquitin ligase CHIP, were originally described in association with SCAR16, a rare autosomal recessive spinocerebellar ataxia, so far reported in 16 kindreds. In the last 2 years, a new form of spinocerebellar ataxia (SCA48), associated with heterozygous mutations in the same gene, has been described in 12 kindreds with autosomal dominant inheritance.

Methods: We reviewed molecular and clinical findings of both SCAR16 and SCA48 described patients. Read More

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http://dx.doi.org/10.1007/s10072-020-04408-3DOI Listing

Language lateralization from task-based and resting state functional MRI in patients with epilepsy.

Hum Brain Mapp 2020 Apr 24. Epub 2020 Apr 24.

National Institute of Neurological Disorders and Stroke, Clinical Epilepsy Section, Bethesda, Maryland, USA.

We compared resting state (RS) functional connectivity and task-based fMRI to lateralize language dominance in 30 epilepsy patients (mean age = 33; SD = 11; 12 female), a measure used for presurgical planning. Language laterality index (LI) was calculated from task fMRI in frontal, temporal, and frontal + temporal regional masks using LI bootstrap method from SPM12. RS language LI was assessed using two novel methods of calculating RS language LI from bilateral Broca's area seed based connectivity maps across regional masks and multiple thresholds (p < . Read More

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http://dx.doi.org/10.1002/hbm.25003DOI Listing

Adaptive behavior and its related factors in children with focal epilepsy.

Epilepsy Behav 2020 Jul 19;108:107092. Epub 2020 Apr 19.

Department of Developmental Disorders, National Institute of Mental Health, National Center of Neurology and Psychiatry, Tokyo, Japan.

Objective: We aimed to clarify the strengths and weaknesses in adaptive behavior in children with focal epilepsy and show children-associated factors related to adaptive behavior.

Materials And Methods: Sixty-three children with focal epilepsy aged 5-18 years with intellectual quotient (IQ) ranging from 67 to 135 were enrolled in this study. Adaptive behavior was evaluated using the Vineland Adaptive Behavior Scale, 2nd edition (VABS-II). Read More

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http://dx.doi.org/10.1016/j.yebeh.2020.107092DOI Listing

Intraocular cataract lens replacement and light exposure potentially impact procedural learning in older adults.

J Sleep Res 2020 Apr 14:e13043. Epub 2020 Apr 14.

Centre for Chronobiology, Psychiatric Hospital of the University of Basel, Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, Basel, Switzerland.

Procedural learning declines with age and appropriately timed light exposure can improve cognitive performance in older individuals. Because cataract reduces light transmission and is associated with cognitive decline in older adults, we explored whether lens replacement (intraocular blue-blocking [BB] or UV-only blocking) in older patients with cataracts enhances the beneficial effects of light on procedural learning. Healthy older participants (n = 16) and older patients with post-cataract surgery (n = 13 with BB or UV lens replacement) underwent a randomized within-subject crossover laboratory design with three protocols. Read More

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http://dx.doi.org/10.1111/jsr.13043DOI Listing

Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation.

J Neurol 2020 Apr 9. Epub 2020 Apr 9.

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Idiopathic basal ganglia calcification (IBGC) or primary familial brain calcification is a rare genetic condition characterized by an autosomal dominant inheritance pattern and the presence of bilateral calcifications in the basal ganglia, thalami, cerebellum and cerebral subcortical white matter. The syndrome is genetically and phenotypically heterogeneous. Causal mutations have been identified in four genes: SLC20A2, PDGFRB, PDGFB and XPR1. Read More

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http://dx.doi.org/10.1007/s00415-020-09821-4DOI Listing

Adverse effects of cannabidiol: a systematic review and meta-analysis of randomized clinical trials.

Neuropsychopharmacology 2020 Apr 8. Epub 2020 Apr 8.

King's College London, Department of Psychosis Studies, Institute of Psychiatry, Psychology & Neuroscience, London, UK.

Cannabidiol (CBD) is being investigated as a treatment for several medical disorders but there is uncertainty about its safety. We conducted the first systematic review and meta-analysis of the adverse effects of CBD across all medical indications. Double-blind randomized placebo-controlled clinical trials lasting ≥7 days were included. Read More

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http://dx.doi.org/10.1038/s41386-020-0667-2DOI Listing

Clinical features of nine cases of leucine-rich glioma inactivated 1 protein antibody-associated encephalitis.

Acta Neurol Belg 2020 Mar 31. Epub 2020 Mar 31.

Department of Neurology, The First Affiliated Hospital of DaLian Medical University, DaLian, China.

To investigate clinical features of leucine-rich glioma inactivated 1 protein (LGI1) antibody-associated autoimmune encephalitis (AE). The clinical data were collected and analyzed in nine patients with LGI1 AE. All nine patients (100%) presented acute/subacute onset, had seizures, cognitive impairment, mental/behavioral abnormalities, six had sleep disorders and seven showed hyponatremia. Read More

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http://dx.doi.org/10.1007/s13760-020-01336-zDOI Listing

Consumer Reports of "Keto Flu" Associated With the Ketogenic Diet.

Front Nutr 2020 13;7:20. Epub 2020 Mar 13.

College of Health and Medicine, University of Tasmania, Hobart, TAS, Australia.

The ketogenic diet (KD) is a high-fat, low-carbohydrate diet that limits glucose and results in the production of ketones by the liver and their uptake as an alternative energy source by the brain. KD is an evidence-based treatment for intractable epilepsy. KD is also self-administered, with limited evidence of efficacy, for conditions including weight loss, cognitive and memory enhancement, type II diabetes, cancer, neurological and psychiatric disorders. Read More

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http://dx.doi.org/10.3389/fnut.2020.00020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082414PMC

Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application.

Dev Med Child Neurol 2020 Jul 30;62(7):784-792. Epub 2020 Mar 30.

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

Genetic variants in brain-expressed voltage-gated sodium channels (SCNs) have emerged as one of the most frequent causes of Mendelian forms of epilepsy and neurodevelopmental disorders (NDDs). This review explores the biological concepts that underlie sodium channel NDDs, explains their phenotypic heterogeneity, and appraises how this knowledge may inform clinical practice. We observe that excitatory/inhibitory neuronal expression ratios of sodium channels are important regulatory mechanisms underlying brain development, homeostasis, and neurological diseases. Read More

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http://dx.doi.org/10.1111/dmcn.14519DOI Listing

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.

Am J Hum Genet 2020 04 26;106(4):467-483. Epub 2020 Mar 26.

Central European Institute of Technology, Masaryk University, Kamenice 735/5, A35, Brno 62500, Czech Republic. Electronic address:

The RNA editing enzyme ADAR2 is essential for the recoding of brain transcripts. Impaired ADAR2 editing leads to early-onset epilepsy and premature death in a mouse model. Here, we report bi-allelic variants in ADARB1, the gene encoding ADAR2, in four unrelated individuals with microcephaly, intellectual disability, and epilepsy. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118584PMC

ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries.

Authors:
Paul M Thompson Neda Jahanshad Christopher R K Ching Lauren E Salminen Sophia I Thomopoulos Joanna Bright Bernhard T Baune Sara Bertolín Janita Bralten Willem B Bruin Robin Bülow Jian Chen Yann Chye Udo Dannlowski Carolien G F de Kovel Gary Donohoe Lisa T Eyler Stephen V Faraone Pauline Favre Courtney A Filippi Thomas Frodl Daniel Garijo Yolanda Gil Hans J Grabe Katrina L Grasby Tomas Hajek Laura K M Han Sean N Hatton Kevin Hilbert Tiffany C Ho Laurena Holleran Georg Homuth Norbert Hosten Josselin Houenou Iliyan Ivanov Tianye Jia Sinead Kelly Marieke Klein Jun Soo Kwon Max A Laansma Jeanne Leerssen Ulrike Lueken Abraham Nunes Joseph O' Neill Nils Opel Fabrizio Piras Federica Piras Merel C Postema Elena Pozzi Natalia Shatokhina Carles Soriano-Mas Gianfranco Spalletta Daqiang Sun Alexander Teumer Amanda K Tilot Leonardo Tozzi Celia van der Merwe Eus J W Van Someren Guido A van Wingen Henry Völzke Esther Walton Lei Wang Anderson M Winkler Katharina Wittfeld Margaret J Wright Je-Yeon Yun Guohao Zhang Yanli Zhang-James Bhim M Adhikari Ingrid Agartz Moji Aghajani André Aleman Robert R Althoff Andre Altmann Ole A Andreassen David A Baron Brenda L Bartnik-Olson Janna Marie Bas-Hoogendam Arielle R Baskin-Sommers Carrie E Bearden Laura A Berner Premika S W Boedhoe Rachel M Brouwer Jan K Buitelaar Karen Caeyenberghs Charlotte A M Cecil Ronald A Cohen James H Cole Patricia J Conrod Stephane A De Brito Sonja M C de Zwarte Emily L Dennis Sylvane Desrivieres Danai Dima Stefan Ehrlich Carrie Esopenko Graeme Fairchild Simon E Fisher Jean-Paul Fouche Clyde Francks Sophia Frangou Barbara Franke Hugh P Garavan David C Glahn Nynke A Groenewold Tiril P Gurholt Boris A Gutman Tim Hahn Ian H Harding Dennis Hernaus Derrek P Hibar Frank G Hillary Martine Hoogman Hilleke E Hulshoff Pol Maria Jalbrzikowski George A Karkashadze Eduard T Klapwijk Rebecca C Knickmeyer Peter Kochunov Inga K Koerte Xiang-Zhen Kong Sook-Lei Liew Alexander P Lin Mark W Logue Eileen Luders Fabio Macciardi Scott Mackey Andrew R Mayer Carrie R McDonald Agnes B McMahon Sarah E Medland Gemma Modinos Rajendra A Morey Sven C Mueller Pratik Mukherjee Leyla Namazova-Baranova Talia M Nir Alexander Olsen Peristera Paschou Daniel S Pine Fabrizio Pizzagalli Miguel E Rentería Jonathan D Rohrer Philipp G Sämann Lianne Schmaal Gunter Schumann Mark S Shiroishi Sanjay M Sisodiya Dirk J A Smit Ida E Sønderby Dan J Stein Jason L Stein Masoud Tahmasian David F Tate Jessica A Turner Odile A van den Heuvel Nic J A van der Wee Ysbrand D van der Werf Theo G M van Erp Neeltje E M van Haren Daan van Rooij Laura S van Velzen Ilya M Veer Dick J Veltman Julio E Villalon-Reina Henrik Walter Christopher D Whelan Elisabeth A Wilde Mojtaba Zarei Vladimir Zelman

Transl Psychiatry 2020 Mar 20;10(1):100. Epub 2020 Mar 20.

Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1400 scientists across 43 countries, studying the human brain in health and disease. Building on large-scale genetic studies that discovered the first robustly replicated genetic loci associated with brain metrics, ENIGMA has diversified into over 50 working groups (WGs), pooling worldwide data and expertise to answer fundamental questions in neuroscience, psychiatry, neurology, and genetics. Most ENIGMA WGs focus on specific psychiatric and neurological conditions, other WGs study normal variation due to sex and gender differences, or development and aging; still other WGs develop methodological pipelines and tools to facilitate harmonized analyses of "big data" (i. Read More

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http://dx.doi.org/10.1038/s41398-020-0705-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7083923PMC
March 2020
4.360 Impact Factor

Identification of Gene Mutations/Deletions in Patients with Early Onset Epilepsy.

Ann Indian Acad Neurol 2020 Mar-Apr;23(2):206-210. Epub 2020 Feb 25.

Department of Pediatric Genetics, Dokuz Eylül University Medical School, Izmir, Turkey.

Background And Aims: gene, which encodes protocadherin 19, is associated with epilepsy and intellectual disability, mainly in affected females. The clinical manifestations are heterogeneous and the main features include early onset seizure, generalized or focal seizures sensitive to fever, and brief seizures occurring in clusters. The disorders exhibit a unique and unusual X-linked pattern of expression. Read More

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http://dx.doi.org/10.4103/aian.AIAN_465_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7061497PMC
February 2020

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.

Genome Med 2020 03 17;12(1):28. Epub 2020 Mar 17.

Stanley Center for Psychiatric Research, The Broad Institute of Harvard and M.I.T, Cambridge, MA, USA.

Background: Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly employed in variant annotation, approximately 80% of known disease-associated genes belong to gene families. The use of gene family information for disease gene discovery and variant interpretation has not yet been investigated on a genome-wide scale. Read More

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http://dx.doi.org/10.1186/s13073-020-00725-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7079346PMC

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.

PLoS Genet 2020 03 16;16(3):e1008625. Epub 2020 Mar 16.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

P/Q-type channels are the principal presynaptic calcium channels in brain functioning in neurotransmitter release. They are composed of the pore-forming CaV2.1 α1 subunit and the auxiliary α2δ-2 and β4 subunits. Read More

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http://dx.doi.org/10.1371/journal.pgen.1008625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176149PMC

On the merits of non-invasive myelin imaging in epilepsy, a literature review.

J Neurosci Methods 2020 May 12;338:108687. Epub 2020 Mar 12.

School for Mental Health and Neuroscience, Maastricht University Medical Center, P. Debyelaan 25, Maastricht, the Netherlands; Department of Radiology and Nuclear Medicine, Maastricht University Medical Center, P. Debyelaan 25, Maastricht, the Netherlands; Department of Electrical Engineering, Eindhoven University of Technology, De Rondom 70, Eindhoven, the Netherlands. Electronic address:

Myelin is a vital element of normal brain development and structure. Myelination is most prominent during the first two years of life and proceeds until the age of 30. Abnormal myelination is related to several neurological and neuropsychiatric disorders such as Alzheimer's disease and multiple sclerosis. Read More

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http://dx.doi.org/10.1016/j.jneumeth.2020.108687DOI Listing

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.

Brain 2020 Apr;143(4):1099-1105

Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, USA.

A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic de novo variants. Epidemiological disease estimates are not available for the vast majority of these de novo monogenic neurodevelopmental disorders because of phenotypic heterogeneity and the absence of large-scale genomic screens. Yet, knowledge of disease incidence is important for clinicians and researchers to guide health policy planning. Read More

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http://dx.doi.org/10.1093/brain/awaa051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174049PMC