114,930 results match your criteria Seizures


Epilepsy and seizures in children with congenital heart disease: A prospective study.

Seizure 2018 Nov 26;64:50-53. Epub 2018 Nov 26.

Clinique d'Investigation Neuro-Cardiaque (CINC), CHU Sainte-Justine, Montreal, Canada.

Purpose: Children with complex congenital heart disease (CHD) experience high incidence of perioperative seizures. Population-based studies also report high epilepsy co-morbidity in CHD. Given the increasing survival of patients with CHD and the interference of seizures and epilepsy with the long-term outcomes, characterizing them in this population is of high relevance. Read More

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http://dx.doi.org/10.1016/j.seizure.2018.11.011DOI Listing
November 2018

Mapping whole brain connectivity changes: The potential impact of different surgical resection approaches for temporal lobe epilepsy.

Cortex 2018 Nov 17;113:1-14. Epub 2018 Nov 17.

Neuroscience and Aphasia Research Unit, Division of Neuroscience and Experimental Psychology, School of Biological Sciences, University of Manchester, UK; MRC Cognition and Brain Sciences Unit, University of Cambridge, UK. Electronic address:

In neurosurgery there are several situations that require transgression of the temporal cortex. For example, a subset of patients with temporal lobe epilepsy require surgical resection (most typically, en-bloc anterior temporal lobectomy). This procedure is the gold standard to alleviate seizures but is associated with chronic cognitive deficits. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00109452183037
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http://dx.doi.org/10.1016/j.cortex.2018.11.003DOI Listing
November 2018
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A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.

Am J Med Genet A 2018 Dec 17. Epub 2018 Dec 17.

Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

Autosomal recessive PRUNE1 mutations are reported to cause a severe neurodevelopmental disorder with microcephaly, hypotonia, and brain malformations. We describe clinical and neuropathological features in a cohort of nine individuals of Cree descent who, because of a founder effect, are homozygous for the same PRUNE1 mutation. They follow the course of a combined neuromuscular and neurodegenerative disease, rather than a pure failure of normal development. Read More

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http://dx.doi.org/10.1002/ajmg.a.60690DOI Listing
December 2018

Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.

Front Genet 2018 30;9:594. Epub 2018 Nov 30.

Developmental and Behavioral Pediatric Department - Child Primary Care Department, Brain and Behavioral Research Unit of Shanghai Institute for Pediatric Research and MOE Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Autism spectrum disorder (ASD) is a group of clinically and genetically heterogeneous neurodevelopmental disorders. Recent tremendous advances in the whole exome sequencing (WES) enable rapid identification of variants associated with ASD including single nucleotide variations (SNVs) and indels. To further explore genetic etiology of ASD in Chinese children with negative findings of copy number variants (CNVs), we applied WES in 80 simplex families with a single affected offspring with ASD or suspected ASD, and validated variations predicted to be damaging by Sanger sequencing. Read More

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http://dx.doi.org/10.3389/fgene.2018.00594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284054PMC
November 2018

Is Mossy Fiber Sprouting a Potential Therapeutic Target for Epilepsy?

Front Neurol 2018 30;9:1023. Epub 2018 Nov 30.

Department of Physiology, Universidade Federal de São Paulo, São Paulo, Brazil.

Mesial temporal lobe epilepsy (MTLE) caused by hippocampal sclerosis is one of the most frequent focal epilepsies in adults. It is characterized by focal seizures that begin in the hippocampus, sometimes spread to the insulo-perisylvian regions and may progress to secondary generalized seizures. Morphological alterations in hippocampal sclerosis are well defined. Read More

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http://dx.doi.org/10.3389/fneur.2018.01023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284045PMC
November 2018

Neonatal Seizures in Iraq: Cause and Outcome.

Tohoku J Exp Med 2018 ;246(4):245-249

Department of Pediatrics, Al-Elwiyah Pediatric Teaching Hospital, Al-Rusafa Health Directorate, Ministry of Health.

During a daily neonatology practice, seizures are a continuous challenge as a common neurological disease with a wide range of underlying etiologies, and considerable risks of morbidity and mortality. This study aimed to clarify the rate, etiological factors and outcomes of neonatal seizures, and a possible foresight of neonatal death in Iraq. A prospective cohort study was conducted in neonates with seizures admitted to 3 major neonatology centers in Baghdad, Iraq, from 1 of December 2017 till the end of May 2018. Read More

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http://dx.doi.org/10.1620/tjem.246.245DOI Listing
January 2018

Neonatal Seizures in Iraq.

Tohoku J Exp Med 2018 ;246(4):243

Executive Editor, Tohoku Journal of Experimental Medicine.

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http://dx.doi.org/10.1620/tjem.246.243DOI Listing
January 2018

Factors predictive of prognosis of infantile spasms. A retrospective study in a low-income country.

Arch Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatrics, La Rabta Hospital, Jabbari, 1007 Tunis, Tunisia; Université Tunis El Manar, Faculté de Médecine de Tunis, 15, Rue Djebel Lakhdhar, 1007 La Rabta, Tunisia; LR12SPO2 les maladies héréditaires du métabolisme investigation et prise en charge, 1007 Tunis, Tunisia.

Purpose: To describe the management of infants with epileptic spasms (ESs) in a low-income country and identify factors predictive of their prognosis.

Material And Methods: We conducted a retrospective study in a university hospital in Tunis, Tunisia, over a period of 10 years. We included infants with recurrent ESs. Read More

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http://dx.doi.org/10.1016/j.arcped.2018.10.003DOI Listing
December 2018

Crossed obsessive-compulsive personality disorder and impaired theory of mind in temporal lobe epilepsy.

Neurol Sci 2018 Dec 15. Epub 2018 Dec 15.

Department of Diagnostics and Applied Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.

People with epilepsy often suffer psychiatric symptoms or exhibit maladaptive personality characteristics which can impact them more than seizures. This case illustrates a selective association of a Theory of Mind dysfunction, including an impaired comparison of reality and others' behavior, with an obsessive-compulsive personality disorder in a patient with left temporal lobe epilepsy and crossed cognitive functions. The patient revealed visual memory deficits and impaired interpretation of other people's behavior, mental rigidity, and a tendency to formulate inflexible judgements. Read More

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http://dx.doi.org/10.1007/s10072-018-3678-6DOI Listing
December 2018

Seizure control after radiosurgery for cerebral arteriovenous malformations: a 25-year experience.

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J Neurosurg 2018 Dec 14:1-10. Epub 2018 Dec 14.

OBJECTIVESeizures are the second-most common presenting symptom in patients with lobar arteriovenous malformations (AVMs). However, few studies have assessed the long-term effect of stereotactic radiosurgery (SRS) on seizure control. The authors of this study assess the outcome of SRS for these patients to identify prognostic factors associated with seizure control. Read More

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http://dx.doi.org/10.3171/2018.7.JNS18304DOI Listing
December 2018

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.

Neuromuscul Disord 2018 Nov 22. Epub 2018 Nov 22.

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Pisa 56128, Italy. Electronic address:

We present a 29-year-old man with visual failure since childhood, muscle weakness, subtle heart muscle hypertrophy, and seizures who was initially considered to be affected by a mitochondrial encephalomyopathy because of the multiple unspecific involvement of brain, muscle and retinal tissues. Only the muscle biopsy findings correctly guided the genetic investigations and the identification of an autophagic vacuolar myopathy due to a homozygous mutation in CLN3. We believe that information in autophagic muscle disorders should further alert clinicians to consider CLN3 in individuals with vacuolar myopathy, especially if they have visual and cardiac involvement. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.11.006DOI Listing
November 2018

Sleep-disordered breathing among patients admitted for inpatient video-EEG monitoring.

Neurology 2018 Dec 14. Epub 2018 Dec 14.

From the Departments of Medicine (S.S., Z.C., A.P., C.J.R., N.C.J., C.F., P.P., P.K., T.J.O.), Neurology (S.S., E.J.W., A.P., C.H., J.C., C.J.R., R.Y., C.F., P.P., P.K., T.J.O.), and Respiratory and Sleep Disorders Medicine (T.M., J.G.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Department of Neuroscience (S.S., Z.C., A.P., N.C.J., C.F., P.P., P.K., T.J.O.), Central Clinical School, Monash University; Department of Neurology (S.S., A.P., P.P., P.K., T.J.O.), The Alfred Hospital; and Neuropsychiatry Unit (S.F., D.V.), The Royal Melbourne Hospital and Melbourne Neuropsychiatry Centre, Australia.

Objective: To examine the prevalence and risk factors of sleep-disordered breathing (SDB) in individuals with epilepsy and psychogenic nonepileptic seizures (PNES).

Methods: We conducted a cross-sectional study of consecutive patients admitted for inpatient video-EEG monitoring at The Royal Melbourne Hospital, Australia, between December 1, 2011, and July 31, 2017. Participants underwent routine clinical investigations during their monitoring period including polysomnography, neurocognitive testing, and screening instruments of daytime somnolence, sleep quality, and quality of life. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006776DOI Listing
December 2018

Spectrum and time course of epilepsy and the associated cognitive decline in duplication syndrome.

Neurology 2018 Dec 14. Epub 2018 Dec 14.

From the Departments of Neurology (D.M., B.S., R.S., D.G., V.N.P., A.M.G.) and Pediatrics (R.S., D.G.), Baylor College of Medicine, Houston, TX.

Objective: We characterized the epilepsy features and contribution to cognitive regression in 47 patients with duplication syndrome (MDS) and reviewed these characteristics in over 280 MDS published cases.

Methods: The institutional review board approved this retrospective review of medical records and case histories of patients with MDS.

Results: The average age at enrollment was 10 ± 7 years. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006742DOI Listing
December 2018

Intravenously Administered Ganaxolone Blocks Diazepam- Resistant Lithium-Pilocarpine-Induced Status Epilepticus in Rats. Comparison with Allopregnanolone.

J Pharmacol Exp Ther 2018 Dec 14. Epub 2018 Dec 14.

University of Washington School of Pharmacy.

Ganaxolone (GNX) is the 3β-methylated synthetic analog of the naturally occurring neurosteroid, allopregnanolone (ALLO). GNX is effective in a broad range of epilepsy and behavioral animal models and is currently in clinical trials designed to assess its anticonvulsant and antidepressant activities. The current studies were designed to broaden the anticonvulsant profile of GNX by evaluating its potential anticonvulsant activities following intravenous (IV) administration in treatment resistant models of status epilepticus (SE), to establish a pharmacokinetic (PK)/pharmacodynamics (PD) relationship, and to compare its PK and anticonvulsant activities to ALLO. Read More

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http://dx.doi.org/10.1124/jpet.118.252155DOI Listing
December 2018

Synthetic cannabinoid hydroxypentyl metabolites retain efficacy at human cannabinoid receptors.

J Pharmacol Exp Ther 2018 Dec 14. Epub 2018 Dec 14.

RTI International;

Synthetic cannabinoids (SCs) are novel psychoactive substances that are easily acquired, widely abused as a substitute for cannabis, and associated with cardiotoxicity and seizures. While the structures of these compounds are based upon scaffolds with known affinity and efficacy at the human cannabinoid type-1 receptor (hCB), upon ingestion or inhalation they can be metabolized to multiple chemical entities of unknown pharmacological activity. A large proportion of these metabolites are hydroxylated on the pentyl chain, a key substituent that determines receptor affinity and selectivity. Read More

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http://dx.doi.org/10.1124/jpet.118.254425DOI Listing
December 2018
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Ivabradine possesses anticonvulsant and neuroprotective action in mice.

Biomed Pharmacother 2019 Jan 2;109:2499-2512. Epub 2018 Dec 2.

Neuropsychopharmacology Laboratory, Department of Physiology and Pharmacology, Faculty of Medicine, Federal University of Ceará (UFC), Fortaleza, CE, Brazil. Electronic address:

We analyzed whether ivabradine (IVA), a hyperpolarization-activated cyclic nucleotide-gated (HCN) channel blocker, clinically used for angina and arrhythmia, had anticonvulsant, antioxidant and neuroprotective properties against classical seizure models. Potential molecular targets to IVA anticonvulsant effects were evaluated by molecular docking. Mice were treated with IVA (1, 10 or 20 mg/kg, IP) for 3 days, and 30 min after the last administration were injected with pentylenetetrazole (PTZ - 85 mg/kg, IP), pilocarpine (PILO 400 mg/kg, SC), picrotoxin (PICRO 10 mg/kg, IP). Read More

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http://dx.doi.org/10.1016/j.biopha.2018.11.096DOI Listing
January 2019

The T-type calcium channel antagonist, Z944, alters social behavior in Genetic Absence Epilepsy Rats from Strasbourg.

Behav Brain Res 2018 Dec 11. Epub 2018 Dec 11.

University of Saskatchewan, Department of Physiology, Saskatoon, SK, Canada.

Abnormalities in social behavior are a co-morbid symptom of idiopathic generalized epilepsies such as childhood absence epilepsy. The Genetic Absence Epilepsy Rats from Strasbourg (GAERS) model is a spontaneously occurring absence epilepsy phenotype closely correlated to that of human absence epilepsies. Similar to the human conditions, GAERS display social abnormalities. Read More

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http://dx.doi.org/10.1016/j.bbr.2018.12.021DOI Listing
December 2018

Clinicopathological and molecular analysis of multinodular and vacuolating neuronal tumors of the cerebrum.

Hum Pathol 2018 Dec 11. Epub 2018 Dec 11.

Department of Pathology, Seoul National University Hospital and Seoul National University College of Medicine, Seoul, Republic of Korea; Institute of Neuroscience, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

Multinodular and vacuolating neuronal tumor (MVNT) of the cerebrum is a recently recognized rare neuronal tumor, and its pathogenesis is unclear. We analyzed 7 cases of histologically typical MVNT: six were adults [mean age: 43.0years (range: 23-56)] and one was a child (10-year-old). Read More

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http://dx.doi.org/10.1016/j.humpath.2018.11.028DOI Listing
December 2018

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Intellectual disability (ID), a genetically and clinically heterogeneous disorder, affects 1%-3% of the general population and is a major health problem, especially in developing countries and in populations with a high frequency of consanguineous marriage. Using whole exome sequencing, a homozygous missense variation (c.3264G>C, p. Read More

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http://dx.doi.org/10.1002/ajmg.a.40531DOI Listing
December 2018

Sensory coding is impaired in rat absence epilepsy.

J Physiol 2018 Dec 13. Epub 2018 Dec 13.

Univ. Grenoble Alpes, Grenoble Institut des Neurosciences, GIN, F-38000, Grenoble, France.

Key Points: Absence epilepsy is characterized by the occurrence of spike-and-wave discharges concomitant with an alteration of consciousness and associated with cognitive comorbidities. In a genetic model of absence epilepsy in the rat, the GAERS, we showed that spike-and-wave discharges are initiated in the barrel field primary somatosensory cortex that codes whisker-related information therefore playing an essential role in rodents' interactions with their environment. Sensory-information processing is impaired in the epileptic barrel field primary somatosensory cortex of GAERS with a delayed sensory-evoked potential and a duplicated neuronal response to whisker-stimulation in in vivo extracellular recordings. Read More

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http://dx.doi.org/10.1113/JP277297DOI Listing
December 2018

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Mol Genet Genomic Med 2018 Dec 11. Epub 2018 Dec 11.

Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.

Background: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% of patients with a clinical diagnosis of AS (AS-like) do not have an identifiable molecular defect. Some of these patients harbor alternative genetic defects that present overlapping features with AS. Read More

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http://dx.doi.org/10.1002/mgg3.511DOI Listing
December 2018

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Clin Genet 2018 Dec 11. Epub 2018 Dec 11.

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

Inherited ataxias are a group of highly heterogeneous, complex neurological disorders representing a significant diagnostic challenge in clinical practice. We performed next generation sequencing analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia. Read More

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http://dx.doi.org/10.1111/cge.13489DOI Listing
December 2018

[Christmas article. The influence of lunar phases on epilectic seizures].

Ugeskr Laeger 2018 Dec;180(50)

An old myth asserts, that the lunar phases influence epileptic seizures. This Christmas article examines the assertion by reviewing four articles about the correlation between the lunar phases and the frequency of seizures in patients with epilepsy and in patients with non-epileptic seizures. Hypotheses suggest, that sleep disturbances, melatonin level and nocturnal illumination may play a role in the relation between lunar phases and epileptic seizures. Read More

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December 2018

Cannabis Oil in an Irish Children’s Critical Care Unit

Ir Med J 2018 Sep 10;111(8):807. Epub 2018 Sep 10.

Department of Paediatric Anaesthesia, Critical Care Medicine and Pain Medicine, Our Lady’s Children’s Hospital, Crumlin, Dublin 12.

Aims We present a case of a five-year-old female admitted postoperatively to the Paediatric Critical Care Unit with a history of refractory seizures for which her parents were administering cannabis oil. Methods We discuss the issues surrounding cannabis prescription in Ireland and the role of parental autonomy in medication selection and administration. Results An administration regime was agreed upon following discussion with the child’s parents. Read More

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September 2018

Evaluating layered stigma from comorbid HIV and epilepsy among Zambian adults.

eNeurologicalSci 2018 Dec 21;13:56-62. Epub 2017 Dec 21.

Strong Epilepsy Center, Department of Neurology, University of Rochester, 265 Crittenden Blvd, CU420694, Rochester, NY 14642, USA.

Background And Purpose: Stigma hinders care for patients with neurologic illness. Layered stigma due to comorbid disease is common yet poorly characterized due to lack of instruments. Epilepsy and HIV are prototypical stigmatized conditions widespread in sub-Saharan Africa. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S24056502173003
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http://dx.doi.org/10.1016/j.ensci.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284156PMC
December 2018
1 Read

Utility of Magnetic Resonance Imaging Brain Epilepsy Protocol in New-Onset Seizures: How is it Different in Developing Countries?

J Clin Imaging Sci 2018 15;8:43. Epub 2018 Nov 15.

Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences, Bengaluru, Karnataka, India.

Introduction: Magnetic resonance imaging (MRI) is the current imaging tool of choice in the investigation of patients with seizures. The advent of high-resolution MRI with a dedicated seizure protocol has significantly increased the chances of identifying a cause, resulting in a positive clinical impact on the management of these patients.

Aims: The aims of this study were to evaluate the diagnostic efficacy of standard MRI, identify whether there is an increase in the diagnostic yield with the addition of dedicated seizure protocol, and compare the diagnostic yields of MRI and electroencephalogram (EEG) individually and in combination. Read More

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http://dx.doi.org/10.4103/jcis.JCIS_38_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251247PMC
November 2018

p53-Sensitive Epileptic Behavior and Inflammation in Hypomorphic Mice.

Front Genet 2018 27;9:581. Epub 2018 Nov 27.

Department of Biology and Biotechnology, Sapienza University of Rome, Rome, Italy.

Epilepsy is a complex clinical condition characterized by repeated spontaneous seizures. Seizures have been linked to multiple drivers including DNA damage accumulation. Investigation of epilepsy physiopathology in humans imposes ethical and practical limitations, for this reason model systems are mostly preferred. Read More

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http://dx.doi.org/10.3389/fgene.2018.00581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278696PMC
November 2018
1 Read

A 17-Year-Old Boy With High-Functioning Autism, Gastrointestinal Illness, and Seizures.

Pediatrics 2018 Dec 13. Epub 2018 Dec 13.

Massachusetts General Hospital, Boston, Massachusetts; and

A healthy 17-year-old boy with a high-functioning pervasive developmental disorder presented to the emergency department after having a 4-minute episode of seizure-like activity in the setting of presumed viral gastroenteritis. Within an hour of emergency department arrival, he developed a forehead-sparing facial droop, right-sided ptosis, and expressive aphasia, prompting stroke team assessment and urgent neuroimaging. Laboratory results later revealed a serum sodium of 119 mmol/L. Read More

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http://pediatrics.aappublications.org/lookup/doi/10.1542/ped
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http://dx.doi.org/10.1542/peds.2017-3964DOI Listing
December 2018
1 Read

Polyamine Homeostasis in Snyder-Robinson Syndrome.

Med Sci (Basel) 2018 Dec 7;6(4). Epub 2018 Dec 7.

Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD 21287, USA.

Loss-of-function mutations of the spermine synthase gene () result in Snyder-Robinson Syndrome (SRS), a recessive X-linked syndrome characterized by intellectual disability, osteoporosis, hypotonia, speech abnormalities, kyphoscoliosis, and seizures. As SMS catalyzes the biosynthesis of the polyamine spermine from its precursor spermidine, SMS deficiency causes a lack of spermine with an accumulation of spermidine. As polyamines, spermine, and spermidine play essential cellular roles that require tight homeostatic control to ensure normal cell growth, differentiation, and survival. Read More

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http://dx.doi.org/10.3390/medsci6040112DOI Listing
December 2018

Ictal networks of temporal lobe epilepsy: views from high-frequency oscillations in stereoelectroencephalography.

Authors:

J Neurosurg 2018 Nov 1:1-9. Epub 2018 Nov 1.

OBJECTIVEIn this study, the authors investigated high-frequency oscillation (HFO) networks during seizures in order to determine how HFOs spread from the focal cerebral cortex and become synchronized across various areas of the brain.METHODSAll data were obtained from stereoelectroencephalography (SEEG) signals in patients with drug-resistant temporal lobe epilepsy (TLE). The authors calculated intercontact cross-coefficients between all pairs of contacts to construct HFO networks in 20 seizures that occurred in 5 patients. Read More

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http://dx.doi.org/10.3171/2018.6.JNS172844DOI Listing
November 2018

Mechanisms of decreased cholinergic arousal in focal seizures: In vivo whole-cell recordings from the pedunculopontine tegmental nucleus.

Exp Neurol 2018 Dec 10. Epub 2018 Dec 10.

Departments of Neurology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA; Departments of Neuroscience, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA; Departments of Neurosurgery, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA. Electronic address:

Focal limbic seizures often impair consciousness/awareness with major negative impact on quality of life. Recent work has shown that limbic seizures depress brainstem arousal systems, including reduced action potential firing in a key node: cholinergic neurons of the pedunculopontine tegmental nucleus (PPT). In vivo whole-cell recordings have not previously been achieved in PPT, but are used here with the goal of elucidating the mechanisms of reduced PPT cholinergic neuronal activity. Read More

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http://dx.doi.org/10.1016/j.expneurol.2018.11.008DOI Listing
December 2018

Epidemiology of lumbar punctures in hospitalized patients in the United States.

PLoS One 2018 13;13(12):e0208622. Epub 2018 Dec 13.

Department of Emergency Medicine, University of Alabama School of Medicine, Birmingham, Alabama, United States of America.

Objectives: Lumbar puncture (LP) is an important technique for assessing and treating neurological symptoms. The objective of this study was to describe the characteristics of diagnostic lumbar punctures performed on hospitalized patients in the United States.

Methods: We analyzed data from the 2010 National Inpatient Sample (NIS) and the National Emergency Department Survey (NEDS). Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208622PLOS
December 2018
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Methotrexate-induced Acute Myelopathy in a Teenager With High-risk Acute Lymphoblastic Leukemia.

J Pediatr Hematol Oncol 2018 Dec 12. Epub 2018 Dec 12.

Pediatric Hemato-Oncology.

Acute lymphoblastic leukemia (ALL) is one of the most frequent malignancies in childhood whose long-term survival has increased up to 80% thanks to modern therapy enhancements. Nevertheless, methotrexate (MTX) remains a mainstay of ALL therapy, but also represents one of the major causes of neurotoxicity in patients with ALL. MTX-induced toxicity occurs in about 9% of patients treated for ALL. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001374DOI Listing
December 2018

Acute non-convulsive status epilepticus after experimental traumatic brain injury in rats.

J Neurotrauma 2018 Dec 13. Epub 2018 Dec 13.

University of Eastern Finalnd , Neulaniementie 2 , Kuopio, Finland , 70211 ;

Severe traumatic brain injury (TBI) induces seizures or status epilepticus (SE) in 20%-30% of patients during the acute phase. We hypothesized that severe TBI induced with lateral fluid-percussion injury (FPI) triggers post-impact SE. Adult Sprague-Dawley male rats were anesthetized with isoflurane and randomized into sham-operated experimental control or lateral FPI-induced severe TBI groups. Read More

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https://www.liebertpub.com/doi/10.1089/neu.2018.6107
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http://dx.doi.org/10.1089/neu.2018.6107DOI Listing
December 2018
1 Read

Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center.

Childs Nerv Syst 2018 Dec 12. Epub 2018 Dec 12.

Department of Pediatrics, AOU Policlinico-Vittorio Emanuele, University of Catania, via S. Sofia 78, 95123, Catania, Italy.

Introduction: Stroke is the clinical designation for a rapidly developing loss of brain function due to an interruption in the blood supply to all or part of the brain. It is the third cause of death in adults and one of the top 10 causes in pediatric age. The perinatal period of onset is the second only to adult age group in the incidence of stroke. Read More

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http://dx.doi.org/10.1007/s00381-018-4017-1DOI Listing
December 2018

Pregabalin-associated Discontinuation Symptoms: A Case Report.

Cureus 2018 Oct 8;10(10):e3425. Epub 2018 Oct 8.

Psychiatry, Nishtar Medical College & Hospital, Multan, PAK.

Pregabalin is used for the treatment of neuropathic pain, partial seizures, generalized anxiety disorder, social anxiety disorder, and insomnia. The discontinuation symptoms of pregabalin are mild to moderate which resolve in about one week after the discontinuation of pregabalin. This case report describes the withdrawal symptoms in a 62-year-old patient despite a slow titration over a period of several weeks. Read More

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http://dx.doi.org/10.7759/cureus.3425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284877PMC
October 2018

Immunosuppression-associated posterior reversible encephalopathy syndrome in an acute leukemia case.

Hematol Rep 2018 Nov 6;10(4):7257. Epub 2018 Nov 6.

Department of Hematology, Hacettepe University School of Medicine, Ankara, Turkey.

Posterior reversible encephalopathy syndrome (PRES) was described in 1996. Herein, we aimed to report an immunosuppression- related PRES case. A 34-year-old woman was diagnosed as t-cell acute lymphoblastic leukemia and allogeneic hematopoietic stem cell transplantation (HSCT) was performed. Read More

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http://dx.doi.org/10.4081/hr.2018.7257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240836PMC
November 2018

Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.

J Hum Genet 2018 Dec 12. Epub 2018 Dec 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA.

In view of conflicting reports on the pathogenicity of 15q11.2 CNVs of the breakpoints 1-2 (BP1-BP2) region and lack of association with a specific phenotype, we collected phenotypic data on 51,462 patients referred for genetic testing at two centers (Magee-Womens Hospital of UPMC and Baylor Genetics Laboratories, Baylor College of Medicine). Using array CGH, 262 patients with deletions and 215 with duplications were identified and tested for their association with four phenotypes (developmental delay, dysmorphic features, autism group of disorders, and epilepsy/seizures). Read More

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http://dx.doi.org/10.1038/s10038-018-0543-7DOI Listing
December 2018

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2018 Dec 12. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, New South Wales, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u.angeborene Stoffwechselerkrankungen, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Australia.

Objective: To delineate the epileptology, a key part of the phenotypic spectrum, in a large patient cohort.

Methods: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic variants or chromosome 6p21. Read More

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
December 2018
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Antimicrobial exposure and the risk of delirium in critically ill patients.

Crit Care 2018 Dec 12;22(1):337. Epub 2018 Dec 12.

Critical Illness, Brain dysfunction, Survivorship (CIBS) Center, 2525 West End Avenue, Nashville, TN, 37232, USA.

Background: Prior retrospective cross-sectional work has associated antimicrobials with a non-specific phrase: encephalopathy without seizures. The purpose of this study is to determine whether different classes of antimicrobials have differential associations with the daily risk of delirium after critical illness is adjusted for.

Methods: Our study was a nested cohort that enrolled non-neurological critically ill adults from a medical or surgical intensive care unit (ICU) with daily follow-up to 30 days. Read More

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http://dx.doi.org/10.1186/s13054-018-2262-zDOI Listing
December 2018

Imaging episodic memory during development and childhood epilepsy.

J Neurodev Disord 2018 Dec 13;10(1):40. Epub 2018 Dec 13.

Center for Neuroscience Research, Children's National Medical Center, 111 Michigan Avenue NW, Washington, D.C., 20010, USA.

Epilepsy affects 2.2 million adults in the USA, with 1 in 26 people developing epilepsy at some point in their lives. Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy as medial structures, and the hippocampus in particular, are prone to generating seizures. Read More

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http://dx.doi.org/10.1186/s11689-018-9255-8DOI Listing
December 2018

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.

Epilepsia 2018 Dec 7. Epub 2018 Dec 7.

Department of Human Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.

Objective: Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure control is often difficult. Identification of the underlying etiology in this patient group is important for daily clinical care. We assessed the diagnostic yield of whole exome sequencing (WES). Read More

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http://dx.doi.org/10.1111/epi.14618DOI Listing
December 2018

Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.

Epilepsia 2018 Dec 7. Epub 2018 Dec 7.

INSERM Unit U1129 Infantile Epilepsies and Brain Plasticity, University Paris Descartes, Sorbonne Paris Cité, Paris, France.

Objective: We aimed to characterize epilepsy of infancy with migrating focal seizures (EIMFS), a rare, severe early onset developmental epilepsy related to KCNT1 mutation, and to define specific electroencephalography (EEG) markers using EEG quantitative analysis. The ultimate goal would be to improve early diagnosis and to better understand seizure onset and propagation of EIMFS as compared to other early onset developmental epilepsy.

Methods: EEG of 7 EIMFS patients with KCNT1 mutations (115 seizures) and 17 patients with other early onset epilepsies (30 seizures) was included in this study. Read More

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http://dx.doi.org/10.1111/epi.14605DOI Listing
December 2018

Running-down phenomenon captured with chronic electrocorticography.

Epilepsia Open 2018 Dec 19;3(4):528-534. Epub 2018 Oct 19.

Department of Neurology NYU School of Medicine New York New York U.S.A.

The running-down phenomenon refers to 2 analogous but distinct entities that may be seen after epilepsy surgery. The first is clinical, and denotes a progressive diminution in seizures after epilepsy surgery in which the epileptogenic zone could not be completely removed (Modern Problems of Psychopharmacology 1970;4:306, Brain 1996:989). The second is electrographic, and refers to a progressive deactivation of a secondary seizure focus after removal of the primary epileptogenic zone. Read More

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http://dx.doi.org/10.1002/epi4.12265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276771PMC
December 2018

A retrospective observational study of EEG findings and antiepileptic drug use among children referred for EEG to Zambia's University Teaching Hospital.

Epilepsia Open 2018 Dec 16;3(4):503-510. Epub 2018 Oct 16.

Epilepsy Division Department of Neurology University of Rochester Rochester New York U.S.A.

Objective: Despite the heavy burden of epilepsy in Sub-Saharan Africa, there remains a relative paucity of neurophysiology services and limited published data on electroencephalography (EEG) features among African children. The aim of this study was to describe clinical characteristics, EEG findings, and antiepileptic drug (AED) use among children referred for EEG to the University Teaching Hospital in Zambia.

Methods: EEG referrals and reports from 2013-2015 were reviewed. Read More

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http://dx.doi.org/10.1002/epi4.12267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276775PMC
December 2018

mutations cause variable phenotypes of developmental and epileptic encephalopathy.

Epilepsia Open 2018 Dec 1;3(4):495-502. Epub 2018 Nov 1.

Department of Pediatrics Showa University School of Medicine Shinagawa-ku, Tokyo Japan.

Objective: Vitamin B-dependent epilepsies are treatable disorders caused by variants in several genes, such as ,, and others. Recently, biallelic variants in formerly known as , were identified as a novel cause of vitamin B-dependent epilepsies. Our objective was to further delineate the phenotype of mutation. Read More

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http://dx.doi.org/10.1002/epi4.12272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276781PMC
December 2018

Adjunctive levetiracetam in the treatment of Chinese and Japanese adults with generalized tonic-clonic seizures: A double-blind, randomized, placebo-controlled trial.

Epilepsia Open 2018 Dec 29;3(4):474-484. Epub 2018 Sep 29.

UCB Pharma Tokyo Japan.

Objective: To assess the efficacy, safety, and tolerability of adjunctive levetiracetam (LEV) in Chinese and Japanese adults with generalized tonic-clonic (GTC) seizures (N01159; NCT01228747).

Methods: This double-blind, randomized, placebo-controlled, multicenter phase III trial comprised: 4-week retrospective and 4-week prospective baseline, 12-week dose-adjustment, and 16-week evaluation periods. Chinese and Japanese patients ≥16 years old with idiopathic generalized, symptomatic generalized, or undetermined epilepsy with GTC seizures received a single-blind placebo during the prospective baseline, and then were randomized 1:1 to placebo or LEV 1,000 mg/day administered twice daily. Read More

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http://dx.doi.org/10.1002/epi4.12255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276779PMC
December 2018

Methodologic recommendations and possible interpretations of video-EEG recordings in immature rodents used as experimental controls: A TASK1-WG2 report of the ILAE/AES Joint Translational Task Force.

Epilepsia Open 2018 Dec 11;3(4):437-459. Epub 2018 Oct 11.

Laboratory of Developmental Epilepsy Saul R. Korey Department of Neurology Dominick P. Purpura Department of Neuroscience Isabelle Rapin Division of Child Neurology Albert Einstein College of Medicine Einstein/Montefiore Epilepsy Center Montefiore Medical Center Bronx New York U.S.A.

The use of immature rodents to study physiologic aspects of cortical development requires high-quality recordings electroencephalography (EEG) with simultaneous video recording (vEEG) of behavior. Normative developmental vEEG data in control animals are fundamental for the study of abnormal background activity in animal models of seizures or other neurologic disorders. Electrical recordings from immature, freely behaving rodents can be particularly difficult because of the small size of immature rodents, their thin and soft skull, interference with the recording apparatus by the dam, and other technical challenges. Read More

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http://dx.doi.org/10.1002/epi4.12262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276777PMC
December 2018