• Medicine · Dec 2021

    Case Reports

    Next-generation sequencing identified a novel CACNA1A I1379F variant in a familial hemiplegic migraine type 1 pedigree: A case report.

    • Huiyan Luan, Lei Zhang, Sijin Zhang, and Meng Zhang.
    • Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun, Jilin, China.
    • Medicine (Baltimore). 2021 Dec 23; 100 (51): e28141e28141.

    RationaleFamilial hemiplegic migraine (FHM) is a rare, autosomal dominant migraine with aura. CACNA1A encodes the α1A subunit of P/Q-type voltage-gated calcium channels, and its mutations have been associated with a wide spectrum of episodic and chronic neurological disorders, including FHM type 1 (FHM1).Patient ConcernsA Chinese girl and some of her relatives who presented with hemiplegia with or without migraine were found to carry a novel heterozygous missense variant, I1379F, in CACNA1A by whole-exome sequencing. The variant consegregated with the disease and was predicted to be pathogenic.DiagnosisThe patient was diagnosed with FHM1 clinically and genetically.InterventionsProphylactic therapy with flunarizine 5 mg daily was prescribed to the patient.OutcomesTherapy with flunarizine was terminated after a few weeks. The intensity of the attacks was the same as before.LessonsThis case indicates that FHM should be considered when a patient manifests with episodic hemiplegia without migraine. In addition, genetic testing is an indispensable method to identify atypical attacks of hemiplegic migraine.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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