Epilepsy in patients with familial hemiplegic migraine
Autor: | Metin Eser, Betül Baykan, Kemal Tutkavul, Buse Rahime Hasırcı Bayır |
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Rok vydání: | 2021 |
Předmět: |
Pediatrics
medicine.medical_specialty Migraine with Aura Cochrane Library medicine.disease_cause 03 medical and health sciences Epilepsy 0302 clinical medicine ATP1A2 medicine OMIM : Online Mendelian Inheritance in Man Humans Generalized epilepsy Familial hemiplegic migraine Mutation business.industry General Medicine medicine.disease Pedigree Neurology Epilepsy Generalized Neurology (clinical) Sodium-Potassium-Exchanging ATPase business 030217 neurology & neurosurgery PRRT2 |
Zdroj: | Seizure. 88 |
ISSN: | 1532-2688 |
Popis: | Objective : The coexistence of epilepsy in familial hemiplegic migraine (FHM) has not been reviewed systematically. We investigated the associations of epilepsy in patients with FHM with CACNA1A, ATP1A2, SCN1A or PRRT2 mutations along with clinical and genetic data. Materials and Methods : We performed a search in the PubMed bibliographic database and the Cochrane Library was screened for eligible studies, from April 1997 to December 2020. Additionally, Online Mendelian Inheritance in Man (OMIM) was searched for mutations in the CACNA1A, ATP1A2, SCN1A and PRRT2 genes. Brief reports, letters, and original articles about FHM and epilepsy were included in the review if their mutations and clinical course of diseases were identified. Results : Of the included patients with FHM whose information could be accessed, there were 28 families and 195 individuals, 78 of whom had epilepsy; 30 patients had focal epilepsy and 30 patients had generalized epilepsy. All mutations except ATP1A2, which could not be evaluated due to insufficient data, revealed first epilepsy then HM. In 60 patients for whom the epilepsy prognosis was evaluated, only 3.5% of patients were drug-resistant, and the remainder had a self-limited course or responded to anti-epileptic drug treatment. Conclusion : Mutations in all three and possibly four FHM genes can cause epilepsy. Contrary to our expectations, the well-known epilepsy gene SCN1A mutations are not the leading cause; the highest number of cases associated with epilepsy belongs to the ATP1A2 mutation. Drug-resistant forms of epilepsy are rare in all FHM mutations, and this information is important for counseling patients. |
Databáze: | OpenAIRE |
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