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

Eur J Med Genet

Department of Neurology, The Affiliated Children's Hospital Of Xiangya School of Medicine, Central South University(Hunan children's hospital), Changsha, Hunan, China. Electronic address:

Published: June 2024

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 MICAL1 gene in the patient and her normal mother. Minigene verified two abnormal transcripts due to the mutation, which was predicted to interrupt 5'UTR structures of MICAL1. The patient was clinically diagnosed with benign childhood epilepsy with centrotemporal spike (BECTS). As far as we know, this is the first BECTS case with documented MICAL1 mutation. Novel MICAL1 variant c.-43-1G > A putatively interrupted MICAL1 translation by changing 5'UTR structures and, however, further functioning study is needed.

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Source
http://dx.doi.org/10.1016/j.ejmg.2024.104946DOI Listing

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