en
Scientific article
English

The spectrum of intermediate SCN8A-related epilepsy

Published inEpilepsia, vol. 60, no. 5, p. 830-844
Publication date2019
Abstract

Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies with variable severity. Furthermore, a few patients with intellectual disability (ID) or movement disorders without epilepsy have been reported. The vast majority of the published SCN8A patients suffer from severe developmental and epileptic encephalopathy (DEE). In this study, we aimed to provide further insight on the spectrum of milder SCN8A-related epilepsies.

Keywords
  • Anticonvulsants/therapeutic use
  • Ataxia/genetics
  • Child
  • Child
  • Preschool
  • Cognitive Dysfunction/genetics
  • Electroencephalography
  • Epilepsy/drug therapy/genetics/physiopathology
  • Genetic Testing
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Infant
  • Intellectual Disability/genetics
  • Language Development Disorders/genetics
  • Movement Disorders/genetics
  • Muscle Hypotonia/genetics
  • Mutation
  • Missense
  • NAV1.6 Voltage-Gated Sodium Channel/genetics
  • Pedigree
  • Severity of Illness Index
Citation (ISO format)
JOHANNESEN, Katrine M et al. The spectrum of intermediate SCN8A-related epilepsy. In: Epilepsia, 2019, vol. 60, n° 5, p. 830–844. doi: 10.1111/epi.14705
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Article (Published version)
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Identifiers
ISSN of the journal0013-9580
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