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• W2107767274 abstract "Dravet syndrome is a severe epilepsy disorder characterised by infantile onset of fever-sensitive seizures. Seizures are therapy resistant, and although children develop normal in the first year of life, progressive cognitive decline occurs soon after seizure onset. Dravet syndrome has a genetic etiology and mutations in the sodium channel α1 subunit gene (SCN1A) are found in approximately 70% of patients. Most mutation occur de novo, although some familial SCN1A mutations have been reported. A small percentage of female patients with a phenotype resembling Dravet syndrome have a mutation in the protocadherin 19 gene (PCDH19) on the X-chromosome. Rare mutations have been found in a few other ion channel genes, but still the genetic cause of approximately 20% of patients with Dravet syndrome remains unknown.Key Concepts: Dravet syndrome is the most frequent indication for DNA analysis within the group of epileptic encephalopathies.In approximately 70% of patients with Dravet syndrome, a heterozygous dominant de novo mutation in SCN1A can be identified.In patients with a clinical diagnosis of Dravet syndrome who test negative for SCN1A sequence-based mutations, additional tests that are capable of detecting copy number variations such as MAQ, MLPA or aCGH are required as SCN1A whole gene or exonic deletions/duplications can be missed on Sanger sequencing.SCN1A mutations in Dravet syndrome lead to haploinsufficiency of the gene.Dravet syndrome is at the most severe end of the GEFS+ spectrum.SCN1A germline and somatic mosaicisms are important causes of recurrence of Dravet syndrome within siblings and intrafamilial clinical heterogeneity.In 25% of female patients with Dravet syndrome who test negative for SCN1A mutations a PCDH19 mutation can be found.In 20% of patients with Dravet syndrome the etiology remains unknown after diagnostic testing of all relevant genes.Keywords:Dravet syndrome;SMEI;SCN1A;PCDH19;copy number variation;haploinsufficiency;mosaicism" @default.
• W2107767274 created "2016-06-24" @default.
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• W2107767274 date "2012-03-15" @default.
• W2107767274 modified "2023-09-24" @default.
• W2107767274 title "Molecular Genetics of Dravet Syndrome" @default.
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• W2107767274 doi "https://doi.org/10.1002/9780470015902.a0023846" @default.
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