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The spectrum of intermediate SCN8A-related epilepsy

Publié dansEpilepsia, vol. 60, no. 5, p. 830-844
Date de publication2019
Résumé

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.

Mots-clés
  • 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 (format ISO)
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)
accessLevelRestricted
Identifiants
ISSN du journal0013-9580
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Informations techniques

Création28.10.2020 14:12:00
Première validation28.10.2020 14:12:00
Heure de mise à jour15.03.2023 23:40:49
Changement de statut15.03.2023 23:40:46
Dernière indexation17.01.2024 11:53:32
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