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Article

CAD gene and early infantile epileptic encephalopathy-50; three Iranian deceased patients and a novel mutation: case report.

BMC pediatrics - 11 Mar 2022

Yarahmadi Sepideh Gholami, Morovvati Saeid

Abstract excerpt

BACKGROUND: Early infantile epileptic encephalopathy is a severe form of epilepsy that is genetically extremely heterogeneous and characterized by seizures or spasms at the beginning of infancy. Homozygous or compound heterozygous mutation in the CAD gene cause early infantile epileptic encephalopathy-50 (EIEE50). This case report describes the clinical and molecular features of three patients affected with early...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35277149
DOI: 10.1186/s12887-022-03195-4
PMCID: PMC8915536

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