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Article

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.

Molecular brain - 16 Aug 2021

Stringer Robin N, Jurkovicova-Tarabova Bohumila, Souza Ivana A, Ibrahim Judy, Vacik Tomas, Fathalla Waseem Mahmoud, Hertecant Jozef, Zamponi Gerald W, Lacinova Lubica, Weiss Norbert

Abstract excerpt

Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies that are characterized by seizures and developmental delay. DEEs are primarily attributed to genetic causes and an increasing number of cases have been correlated with variants in ion channel genes. In this study, we report a child with an early severe DEE. Whole exome sequencing showed a de novo heterozygous variant (c.4873-4881...

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Source

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Identifiers

PMID: 34399820
DOI: 10.1186/s13041-021-00838-y
PMCID: PMC8365958

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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