Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.
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 individual...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2019-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=15306 |
| _version_ | 1797816683328438272 |
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| author | Waleed Altwaijri Fuad Almalki Ahmed Al-Rumayyan Safiyyah Asiri |
| author_facet | Waleed Altwaijri Fuad Almalki Ahmed Al-Rumayyan Safiyyah Asiri |
| author_sort | Waleed Altwaijri |
| collection | DOAJ |
| description | 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. [JBCGenetics 2019; 2(1.000): 85-90] |
| first_indexed | 2024-03-13T08:41:20Z |
| format | Article |
| id | doaj.art-a957073d984443a39a4c5edfeaf91692 |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:20Z |
| publishDate | 2019-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-a957073d984443a39a4c5edfeaf916922023-05-30T11:42:45ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2019-06-0121859010.24911/JBCGenetics/183-154105689715306Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.Waleed Altwaijri0Fuad Almalki1Ahmed Al-Rumayyan2Safiyyah Asiri3Pediatric Department, King Abdullah Children Specialist Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi Arabia Pediatric Department, King Abdullah Children Specialist Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi Arabia Pediatric Department, King Abdullah Children Specialist Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi Arabia Pediatric Department, King Abdullah Children Specialist Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi ArabiaBackground: 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. [JBCGenetics 2019; 2(1.000): 85-90]http://www.ejmanager.com/fulltextpdf.php?mno=15306familial hemiplegic migrainecomahyperthermiacortical spreading depression |
| spellingShingle | Waleed Altwaijri Fuad Almalki Ahmed Al-Rumayyan 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 familial hemiplegic migraine coma hyperthermia cortical spreading depression |
| title | Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family. |
| title_full | Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family. |
| title_fullStr | Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family. |
| title_full_unstemmed | Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family. |
| title_short | Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family. |
| title_sort | familial hemiplegic migraine with prolonged coma and hyperthermia atp1a2 gene mutation case report in a single saudi family |
| topic | familial hemiplegic migraine coma hyperthermia cortical spreading depression |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=15306 |
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