Dravet syndrome--from epileptic encephalopathy to channelopathy.
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Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome.Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.SCN8A encephalopathy: Research progress and prospectsDetermination of the Optimal Concentration of Valproic Acid in Patients with Epilepsy: A Population Pharmacokinetic-Pharmacodynamic Analysis.Pathway-driven discovery of epilepsy genes.SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept.Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.Dravet syndrome and its mimics: Beyond SCN1A.Dravet syndrome: a new causative SCN1A mutation?Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotypeDravet in the dish: mechanisms of hyperexcitability.The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey.GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.Mapping of a FEB3 homologous febrile seizure locus on mouse chromosome 2 containing candidate genes Scn1a and Scn3a.Cognitive characterization of children with Dravet syndrome: A neurodevelopmental perspective.Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome.Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.
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P2860
Dravet syndrome--from epileptic encephalopathy to channelopathy.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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name
Dravet syndrome--from epileptic encephalopathy to channelopathy.
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type
label
Dravet syndrome--from epileptic encephalopathy to channelopathy.
@en
prefLabel
Dravet syndrome--from epileptic encephalopathy to channelopathy.
@en
P2860
P356
P1433
P1476
Dravet syndrome--from epileptic encephalopathy to channelopathy.
@en
P2093
Andreas Brunklaus
Sameer M Zuberi
P2860
P304
P356
10.1111/EPI.12652
P577
2014-05-16T00:00:00Z