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Article

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

13 May 2024

Abstract excerpt

Anoctamins are a family of Ca 2+ -activated proteins that may act as ion channels and/or phospholipid scramblases with limited understanding of function and disease association. Here, we identified five de novo and two inherited missense variants in ANO4 (alias TMEM16D ) as a cause of fever-sensitive developmental and epileptic or epileptic encephalopathy (DEE/EE) and generalized epilepsy with febrile seizures...

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Epilepsy research and treatment
Hemoglobinopathies and Related Disorders
Ion channel regulation and function

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 38744284
DOI: 10.1016/j.ajhg.2024.04.014

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