Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.

Waleed Altwaijri; Fuad Almalki; Ahmed Al-Rumayyan; Safiyyah Asiri

doi:10.24911/JBCGenetics/183-1541056897

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Case Report
Online Published: 01 Jan 2019

JBCGenetics. 2019; 2(1): 85-90

doi: 10.24911/JBCGenetics/183-1541056897

Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.

Waleed Altwaijri, Fuad Almalki, Ahmed Al-Rumayyan, Safiyyah Asiri.

Abstract
Background: Familial hemiplegic migraine (FHM) is a rare disorder presented commonly with coma, hyperthermia, and headache. FHM is usually associated with fully reversible motor weakness as a specific symptom of aura. Seizure and fever are the secondary features observed. All the affected individuals were subjected to several laboratory tests.
Case presentation: Three sisters diagnosed with type 2 familial hemiplegic migraines presenting features such as coma and hyperthermia. The brain (MRI) revealed focal subtle cortical swelling, Electroencephalography (EEG) showed unilateral slowing, while no signs of infectious disease were observed. Molecular and genetic tests using whole exome sequencing (WES) identified a novel heterozygous mutation (c.2450T>A p.Ile817Asn) in the exon 18 of the ATP1A2 gene (NM_000702.3). The variant segregated with the disease phenotype within the family.
Conclusion: The current study report for the first time, a Saudi family with migraine coma having a novel heterozygous AT1A2 mutation.

Key words: Familial hemiplegic migraine, coma, hyperthermia, cortical spreading depression

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Pubmed Style

Altwaijri W, Almalki F, Al-Rumayyan A, Asiri S. Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.. JBCGenetics. 2019; 2(1): 85-90. doi:10.24911/JBCGenetics/183-1541056897

Web Style

Altwaijri W, Almalki F, Al-Rumayyan A, Asiri S. Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.. https://www.jbcgenetics.com/?mno=15306 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1541056897

AMA (American Medical Association) Style

Altwaijri W, Almalki F, Al-Rumayyan A, Asiri S. Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.. JBCGenetics. 2019; 2(1): 85-90. doi:10.24911/JBCGenetics/183-1541056897

Vancouver/ICMJE Style

Altwaijri W, Almalki F, Al-Rumayyan A, Asiri S. Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.. JBCGenetics. (2019), [cited November 14, 2024]; 2(1): 85-90. doi:10.24911/JBCGenetics/183-1541056897

Harvard Style

Altwaijri, W., Almalki, . F., Al-Rumayyan, . A. & Asiri, . S. (2019) Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.. JBCGenetics, 2 (1), 85-90. doi:10.24911/JBCGenetics/183-1541056897

Turabian Style

Altwaijri, Waleed, Fuad Almalki, Ahmed Al-Rumayyan, and Safiyyah Asiri. 2019. Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.. Journal of Biochemical and Clinical Genetics, 2 (1), 85-90. doi:10.24911/JBCGenetics/183-1541056897

Chicago Style

Altwaijri, Waleed, Fuad Almalki, Ahmed Al-Rumayyan, and Safiyyah Asiri. "Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.." Journal of Biochemical and Clinical Genetics 2 (2019), 85-90. doi:10.24911/JBCGenetics/183-1541056897

MLA (The Modern Language Association) Style

Altwaijri, Waleed, Fuad Almalki, Ahmed Al-Rumayyan, and Safiyyah Asiri. "Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.." Journal of Biochemical and Clinical Genetics 2.1 (2019), 85-90. Print. doi:10.24911/JBCGenetics/183-1541056897

APA (American Psychological Association) Style

Altwaijri, W., Almalki, . F., Al-Rumayyan, . A. & Asiri, . S. (2019) Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.. Journal of Biochemical and Clinical Genetics, 2 (1), 85-90. doi:10.24911/JBCGenetics/183-1541056897

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