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Article

A novel splicing variant in MICAL-1 gene is associated with epilepsy.

European journal of medical genetics - 1 Jun 2024

Yang Haiyan, Liao Hongmei, Gan Siyi, Xiao Ting, Wu Liwen

Abstract excerpt

Germline MICAL1 defects have been rarely reported in patients with epilepsy and the genotype-phenotype association remains unclear. In this study, the patient was a 4.6 years old girl who presented with onset of recurrent focal seizures with onset at age 3.4 years. EEG showed abnormal δ-wave activity in the right central and middle temporal lobe. Trio WES showed a novel heterozygous variant c.-43-1G > A in the...

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PMID: 38705457
DOI: 10.1016/j.ejmg.2024.104946

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