A novel CACNA1A R2201W variant in a woman with hemiplegic migraine.

Giacomo Baso Francesco MeleElda Del GiudiceAlberta LeonLeonardo Pantoni

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)

This is the first report describing the missense mutation c.6601C>T (p.Arg2201Trp) in heterozygosity in the CACNA1A gene in a patient with clinical features of hemiplegic migraine. The presence of a diffuse leukoencephalopathy on MRI is not typical of hemiplegic migraine and may suggest a phenotypic variant related to this mutation or result from the combined effect of the patient's comorbidities.

Keyphrases

case report
cerebral palsy
magnetic resonance imaging
computed tomography
contrast enhanced
low grade
gene expression
autism spectrum disorder
magnetic resonance
dna methylation
drug induced
diffusion weighted imaging