Article

Analysis of the Phenotypic Spectrum of Multiple Epileptic Seizure Types Caused by ALG13 Gene Mutation with Coexistent Febrile Seizures and a Literature Review

2026-05-11

Abstract excerpt

<title>Abstract</title> <p>This paper reports a family with a novel ALG13 variant (c.1130A>G; p.Asp377Gly). The proband had a hemizygous mutation inherited from the mother, presenting with clinical phenotypes of multiple epileptic seizure types and febrile seizures. Both the mother and the proband's twin sisters had a heterozygous mutation at this locus, with only febrile seizures as their clinical manifestation....

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Literature Corpus work: abe6c743-fa19-5cb4-b272-5ce9e604ad77
DOI: 10.21203/rs.3.rs-9470475/v1

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