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[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2024

Rudenskaya G E, Guseva D M, Shatokhina O L, Kadnikova V A, Filatova A Yu, Skoblov M Yu, Ryzhkova O P

Abstract excerpt

A case of DEE98, a rare developmental and epileptic encephalopathy related to previously reported the de novo missense mutation p.Arg908Gln in the ATP1A2 gene, is described. A girl examined first time in 11 months had microcephaly, severe mental and motor delay, strabismus, spastic paraparesis and pachypolymicrogyria on brain MRI that is atypical for DEE98. Epilepsy with polymorphic seizures started at the age of...

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Identifiers

PMID: 39072579
DOI: 10.17116/jnevro2024124061133

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