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

ABSTRACT:

Rationale

Familial 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 concerns

A 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.

Diagnosis

The patient was diagnosed with FHM1 clinically and genetically.

Interventions

Prophylactic therapy with flunarizine 5 mg daily was prescribed to the patient

SUBMITTER: Luan H 

PROVIDER: S-EPMC8702007 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature