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Genetics of cognition in epilepsyLow-dose fenfluramine in the treatment of neurologic disorders: experience in Dravet syndromePathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studiesPharmacological characterization of an antisense knockdown zebrafish model of Dravet syndrome: inhibition of epileptic seizures by the serotonin agonist fenfluramineDe novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEPDe Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyPostzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individualsImpaired intracortical inhibition demonstrated in vivo in people with Dravet syndrome.Large-scale structural alteration of brain in epileptic children with SCN1A mutationNeuroimaging and neuropathology of Dravet syndrome.Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.Hierarchical clustering of gene expression patterns in the Eomes + lineage of excitatory neurons during early neocortical developmentInvestigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.Reprogramming patient-derived cells to study the epilepsiesCognitive Deficits Associated with Nav1.1 Alterations: Involvement of Neuronal Firing Dynamics and OscillationsDisruption of Endocytosis with the Dynamin Mutant shibirets1 Suppresses Seizures in DrosophilaCorrespondence between Resting-State Activity and Brain Gene Expression.A human Dravet syndrome model from patient induced pluripotent stem cells.Distribution of disease-associated copy number variants across distinct disorders of cognitive development.Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.Sodium channels and the neurobiology of epilepsy.Epileptic encephalopathies (including severe epilepsy syndromes).Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.Ideal characteristics of an antiepileptic drug: how do these impact treatment decisions for individual patients?Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.Ketogenic diet in epileptic encephalopathies.Diagnosis and management of epileptic encephalopathies in children.Clinical management of epileptic encephalopathies of childhood and infancy.Untangling the dravet syndrome seizure network: the changing face of a rare genetic epilepsyEpilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.The contribution of next generation sequencing to epilepsy genetics.Role of Sodium Channels in Epilepsy.Voltage-Gated Na+ Channels: Not Just for Conduction.Dravet Syndrome: Diagnosis and Long-Term Course.SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Dravet syndrome in Sweden: a population-based study.
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on April 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
The genetics of Dravet syndrome.
@en
The genetics of Dravet syndrome.
@nl
type
label
The genetics of Dravet syndrome.
@en
The genetics of Dravet syndrome.
@nl
prefLabel
The genetics of Dravet syndrome.
@en
The genetics of Dravet syndrome.
@nl
P2093
P2860
P50
P1433
P1476
The genetics of Dravet syndrome
@en
P2093
Carla Marini
Peter De Jonghe
Renzo Guerrini
Rima Nabbout
P2860
P356
10.1111/J.1528-1167.2011.02997.X
P478
52 Suppl 2
P577
2011-04-01T00:00:00Z