Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants
Sign Up to like & getrecommendations! Published in 2020 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.10.005
Abstract: AIM Dravet syndrome (DS) is characterized by high epilepsy-related premature mortality with a markedly young age at death, however, autopsy report of sudden unexpected death with DS has been fewer than expected. METHODS We report… read more here.
Keywords: death; unexpected death; case; dravet syndrome ... See more keywords
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
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DOI: 10.1093/brain/awac210
Abstract: Abstract Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are associated… read more here.
Keywords: function; gain function; epilepsy; scn1a ... See more keywords
SCN1A variants associated with sudden infant death syndrome
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DOI: 10.1111/epi.14055
Abstract: We identified SCN1A variants in 2 infants who died of sudden infant death syndrome (SIDS) with hippocampal abnormalities from an exome sequencing study of 10 cases of SIDS but no history of seizures. One harbored… read more here.
Keywords: infant death; scn1a; scn1a variants; death syndrome ... See more keywords
The fascinating phenotypic spectrum of SCN1A gain‐of‐function epilepsies
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DOI: 10.1111/epi.17562
Abstract: SCN1A, long referred to as the most important epilepsy gene, continues to deliver exciting scientific surprises. It has always been associated with a broad phenotypic spectrum ranging from developmental and epileptic encephalopathies (DEEs), with Dravet… read more here.
Keywords: gof; spectrum scn1a; phenotypic spectrum; spectrum ... See more keywords
Not all SCN1A epileptic encephalopathies are Dravet syndrome
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DOI: 10.1212/wnl.0000000000004331
Abstract: Objective: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. Methods: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and… read more here.
Keywords: profound developmental; movement disorder; dravet syndrome; scn1a ... See more keywords
Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy
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DOI: 10.1371/journal.pgen.1009195
Abstract: Dravet syndrome (DS) is a developmental and epileptic encephalopathy that results from mutations in the Nav1.1 sodium channel encoded by SCN1A. Most known DS-causing mutations are in coding regions of SCN1A, but we recently identified… read more here.
Keywords: epileptic encephalopathy; poison exon; exon 20n; scn1a ... See more keywords
SCN1A channelopathies: Navigating from genotype to neural circuit dysfunction
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1173460
Abstract: The SCN1A gene is strongly associated with epilepsy and plays a central role for supporting cortical excitation-inhibition balance through the expression of NaV1.1 within inhibitory interneurons. The phenotype of SCN1A disorders has been conceptualized as… read more here.
Keywords: channelopathies navigating; dysfunction; scn1a channelopathies; scn1a ... See more keywords