A5072063739- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Pharmacological Effects and Toxicity Studies
- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Neuroscience and Neuropharmacology Research
- Ion channel regulation and function
- Neonatal and fetal brain pathology
- Diet and metabolism studies
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Fetal and Pediatric Neurological Disorders
- Ion Transport and Channel Regulation
- Genetic Neurodegenerative Diseases
- Cardiac electrophysiology and arrhythmias
- Alcoholism and Thiamine Deficiency
- RNA regulation and disease
- Genomic variations and chromosomal abnormalities
- EEG and Brain-Computer Interfaces
- RNA Research and Splicing
- Health and Conflict Studies
- Ophthalmology and Eye Disorders
- Bacterial Infections and Vaccines
- COVID-19 epidemiological studies
Maccabi Health Care Services
2023-2025
Tel Aviv University
2010-2024
Ariel University
2023
Schneider Children's Medical Center
2010-2021
Austin Health
2008-2017
Wolfson Medical Center
2008-2017
The University of Melbourne
2012-2017
Peking University First Hospital
2017
Peking University
2017
The University of Queensland
2017
Paroxysmal exercise-induced dyskinesia (PED) can occur in isolation or association with epilepsy, but the genetic causes and pathophysiological mechanisms are still poorly understood. We performed a clinical evaluation analysis five-generation family co-occurrence of PED epilepsy (n = 39), suggesting that this combination represents entity. Based on whole genome linkage we screened SLC2A1, encoding glucose transporter blood-brain-barrier, GLUT1 identified heterozygous missense frameshift...
Objective The leading cause of epilepsy‐related premature mortality is sudden unexpected death in epilepsy (SUDEP). SUDEP remains unknown. To search for genetic risk factors cases, we performed an exome‐based analysis rare variants. Methods Demographic and clinical information 61 cases were collected. Exome sequencing variant collapsing with 2,936 control exomes to test genes enriched damaging Additionally, cardiac arrhythmia, respiratory control, screened variants frequency <0.1%...
To evaluate the outcome of children with cryptogenic infantile spasms treated high-dose synthetic adrenocorticotropic hormone (ACTH) and relation between early treatment, within 1 month onset, outcome.We assessed long-term cognitive seizure outcomes 37 patients (onset, age 3 to 9 months) receiving standardized treatment regimen tetracosactide depot, mg IM every 48 h for 2 weeks, a subsequent 8- 10-week slow taper followed by oral prednisone, 10 mg/day month, 5 months or until infant reached...
Epilepsy and Mental Retardation limited to Females (EFMR) which links Xq22 has been reported in only one family. We aimed determine if there was a distinctive phenotype that would enhance recognition of this disorder. ascertained four unrelated families (two Australian, two Israeli) where seizures females were transmitted through carrier males. Detailed clinical assessment performed on 58 individuals, using validated seizure questionnaire, neurological examination review EEG imaging studies....
This study evaluated the cognitive profiles of children with idiopathic generalized epilepsy (IGE), uniformly treated valproic acid well-controlled seizures. Twenty-four were neuropsychologically evaluated. They comprised: 14 females, 10 males: 12 tonic-clonic seizures (GTCS), mean age 14y 4mo, SD ly 7mo, range 12y to 16y 4 mo; absence (AS]) 5mo, 10mo, 11y intellectual abilities within normal and age-appropriate scholastic skills, 20 healthy controls (12 8 males; 1y 10y 7mo 7mo). As a group,...
We aimed to determine the type, frequency, and size of microchromosomal copy number variations (CNVs) affecting neuronal sodium channel α 1 subunit gene (SCN1A) in Dravet syndrome (DS), other epileptic encephalopathies, generalized epilepsy with febrile seizures plus (GEFS+).Multiplex ligation-dependent probe amplification (MLPA) was applied detect SCN1A CNVs among 289 cases (126 DS, 97 GEFS+, 66 phenotypes). extending beyond were further characterized by comparative genome hybridization...
Abstract Objective: We examined whether glucose transporter 1 (GLUT1) deficiency causes common idiopathic generalized epilepsies (IGEs). Methods: The IGEs are common, heritable that usually follow complex inheritance; currently little is known about their genetic architecture. Previously considered rare, GLUT1 deficiency, due to mutations in SLC2A1 , leads failure of transport across the blood–brain barrier and inadequate for brain metabolism. was first associated with an encephalopathy more...
<h3>Objective:</h3> Following our original description of generalized epilepsy with febrile seizures plus (GEFS+) in 1997, we analyze the phenotypic spectrum 409 affected individuals 60 families (31 new families) and expand GEFS+ spectrum. <h3>Methods:</h3> We performed detailed electroclinical phenotyping on all available family members. Genetic analysis known genes was carried out where possible. compared genetic data to those published literature over last 19 years. <h3>Results:</h3>...
Summary Objective We evaluated seizure outcome in a large cohort of familial neonatal seizures ( FNS ), and examined phenotypic overlap with different molecular lesions. Methods Detailed clinical data were collected from 36 families comprising two or more individuals seizures. The course occurrence later life analyzed. Families screened for KCNQ 2 , 3 SCN 2A PRRT mutations, linkage studies performed mutation‐negative to exclude known loci. Results Thirty‐three fulfilled criteria benign...
Four children treated for seizures between 1980 and 1986 were diagnosed as having Landau-Kleffner syndrome (acquired aphasia with convulsive disorder), following the onset of aphasia. They received early prolonged ACTH or corticosteroid therapy, high initial doses. In all four cases EEG promptly became normal, subsequent long-lasting remission improvement seizure control. Three to six years after discontinuation hormone therapy are off medication free from language disability.
Summary: Purpose: In families with idiopathic generalized epilepsy (IGE), multiple IGE subsyndromes may occur. We performed a genetic study of to clarify the relation and improve understanding mode(s) inheritance. Methods: Clinical genealogic data were obtained on probands family members history seizures. Families grouped according probands' subsyndrome: childhood absence (CAE), juvenile (JAE), myoclonic (JME), tonic–clonic seizures only (IGE‐TCS). The in relatives analyzed. Mutations genes...
Summary: Purpose: Childhood epilepsy with occipital paroxysms (CEOP) is characterised by ictal visual hallucinations and epileptiform activity on interictal EEG. A variant has been described nonvisual symptoms including tonic head eye deviation, vomiting, episodes of partial status epilepticus. We fully documented the electroclinical features such patients to determine whether classification separate from CEOP justified. Methods: This was a multicentre study participating investigators...
Benign familial infantile epilepsy (BFIE) is an autosomal dominant syndrome characterized by afebrile seizures beginning at about 6 months of age. Mutations in PRRT2, encoding the proline-rich transmembrane protein 2 gene, have recently been identified majority families with BFIE and associated convulsions choreoathetosis (ICCA). We asked whether phenotypic spectrum PRRT2 was broader than initially recognized studying patients sporadic benign non-BFIE for mutations.Forty-four probands...
Summary Mutations of the SCN 1A subunit sodium channel is a cause genetic epilepsy with febrile seizures plus ( GEFS + ) in multiplex families and accounts for 70–80% Dravet syndrome DS ). cases without mutation inherited have predicted 9A susceptibility variants, which may contribute to complex inheritance these unexplained . Compared controls, were significantly enriched rare variants. None seizure or could be explained by highly penetrant mutations.