about
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.Clinical and molecular phenotype of Aicardi-Goutieres syndromeUpdate on diagnosis and management of childhood epilepsiesMutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.The movement disorders of Coffin-Lowry syndrome.Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.Developmental outcome in benign myoclonic epilepsy in infancy and reflex myoclonic epilepsy in infancy: a literature review and six new cases.Investigating neuroblastoma in childhood opsoclonus-myoclonus syndrome.Outcome and prognostic features in opsoclonus-myoclonus syndrome from infancy to adult life.Treatment of behavioral problems in intellectually disabled adult patients with epilepsy.Chromosome disorders associated with epilepsy.Dravet syndrome--from epileptic encephalopathy to channelopathy.Genotype phenotype associations across the voltage-gated sodium channel family.The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research.ICD coding for epilepsy: past, present, and future--a report by the International League Against Epilepsy Task Force on ICD codes in epilepsy.Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment.Dravet syndrome and its mimics: Beyond SCN1A.Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation.The impact of methylphenidate on seizure frequency and severity in children with attention-deficit-hyperactivity disorder and difficult-to-treat epilepsies.Comorbidities and predictors of health-related quality of life in Dravet syndrome.A White Paper on the medical and social needs of people with epilepsy and intellectual disability: the Task Force on Intellectual Disabilities and Epilepsy of the International League Against Epilepsy.Response to the numbering of seizure types.Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology.Instruction manual for the ILAE 2017 operational classification of seizure types.ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.Sleep, oxygen saturation, and seizures in Dravet syndrome.The spectrum of SCN1A-related infantile epileptic encephalopathies.Chipping away at the channels: Can we fashion a syndrome?Symptoms of narcolepsy in children misinterpreted as epilepsy.A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism.Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy.Genetics update: Monogenetics, polygene disorders and the quest for modifying genes.The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome.
P50
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P50
name
Sameer M Zuberi
@ast
Sameer M Zuberi
@en
Sameer M Zuberi
@nl
type
label
Sameer M Zuberi
@ast
Sameer M Zuberi
@en
Sameer M Zuberi
@nl
prefLabel
Sameer M Zuberi
@ast
Sameer M Zuberi
@en
Sameer M Zuberi
@nl