Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A

Okubo, Yukimune; Shibuya, Moriei; Nakamura, Hiroki; Kawashima, Aritomo; Kodama, Kaori; Endo, Wakaba; Inui, Tomoyuki; Togashi, Noriko; Aihara, Yu; Shirota, Matsuyuki; Funayama, Ryo; Niihori, Tetsuya; Fujita, Atsushi; Nakayama, Keiko; Aoki, Yoko; Matsumoto, Naomichi; Kure, Shigeo; Kikuchi, Atsuo; Haginoya, Kazuhiro

doi:10.1016/j.braindev.2023.06.009

Search citation statements

Order By: Relevance

Paper Sections

Select...

Introduction1

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2024

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

(1 citation statement)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…SCN1A encodes the alpha subunit of neuronal voltage-gated sodium channel. [ 1 ] Mutations in the SCN1A gene cause Dravet syndrome in about 80% of cases. [ 2 ] One of the other presentations of SCN1A mutation is developmental and epileptic encephalopathy-6B (DEE6B).…”

Section: Introductionmentioning

confidence: 99%

A Novel Case of SCN1A Mutation Presenting as Hyperkinetic Movement Disorder

Mohinish,

Cornelius,

Elango

et al. 2024

Annals of Indian Academy of Neurology

View full text Add to dashboard Cite

SCN1A mutation is most often associated with Dravet syndrome, which is characterized by severe encephalopathy. One of the other presentations of SCN1A mutation is developmental and epileptic encephalopathy-6B (DEE6B). It is a severe neurodevelopmental disorder characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder. Here we report a rare case of novel SCN1A mutation presenting as hyperkinetic movement disorder in the form of multifocal dystonia and parakinesia in a 12-year-old boy, which aggravated with the use of sodium channel blockers.

show abstract

Section: Introductionmentioning

confidence: 99%