Developmental and epileptic encephalopathy produced by the ATP1A2 mutation

Rudenskaya GE, Guseva DM, Shatokhina OL, Kadnikova VA, Filatova AYu, Skoblov MYu, Ryzhkova OP. Developmental and epileptic encephalopathy produced by the ATP1A2 mutation. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;124(6):133‑138. (In Russ.)
https://doi.org/10.17116/jnevro2024124061133

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)

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Abstract:

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 15 months. There was a remission lasting 9 months, after which seizures renewed. DEE98 was diagnosed at the age of 2 years 9 months by exome sequencing verified by trio Sanger sequencing. Another finding from high-throughput exome sequencing were two previously undescribed heterozygous variants of uncertain pathogenicity in the SPART gene, which causes autosomal recessive spastic paraplegia type 20 (SPG20); Sanger sequencing confirmed the trans position of the variants. The common clinical sign with typical SPG20 was early spastic paraparesis with contractures; other symptoms did not coincide. Considering the phenotypic diversity of SPG20 and the possibility of a combination of two independent diseases, we performed an additional study of the pathogenicity of SPART variants at the mRNA level: pathogenicity was not confirmed, and there were no grounds to diagnose SPG20.

Keywords:

developmental and epileptic encephalopathy

pachypolymicrogyria

exome sequencing

ATP1A2 gene

SPART gene

mRNA

Authors:

Rudenskaya G.E.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-8244-9367

Guseva D.M.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0003-3761-8595

Shatokhina O.L.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0003-0351-1271

Kadnikova V.A.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-1245-4881

Filatova A.Yu.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-5979-0727

Skoblov M.Yu.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-7293-3438

Ryzhkova O.P.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0003-1285-9093

Received:

01.03.2024

Accepted:

14.03.2024

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