Results 141 to 150 of about 3,294 (160)

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria [PDF]

open access: yesBrain, 2021
Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3 ...
Carmen Barba   +2 more
exaly   +4 more sources

ATP1A2 mutations in 11 families with familial hemiplegic migraine

open access: yesHuman Mutation, 2005
Familial hemiplegic migraine (FHM) is an autosomal dominant form of migraine with aura. The disease is caused by mutations of at least three genes among which two have been identified, CACNA1A and ATP1A2. Very few mutations have been identified so far in
Anne Ducros   +2 more
exaly   +2 more sources

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations

open access: yesEpilepsy and Behavior, 2021
BackgroundATP1A2 mutations cause hemiplegic migraine with or without epilepsy or acute reversible encephalopathy. Typical onset is in adulthood or older childhood without subsequent severe long-term developmental impairments.AimWe aimed to describe the ...
Joan M Jasien, Mohamad Mikati
exaly   +2 more sources

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies [PDF]

open access: yesMolecular Genetics & Genomic Medicine, 2013
Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness.
Bru Cormand   +2 more
exaly   +4 more sources

Screen for CACNA1A and ATP1A2 Mutations in Sporadic Hemiplegic Migraine Patients

open access: yesCephalalgia, 2008
The aim of this study was to investigate the involvement of the CACNA1A and ATP1A2 gene in a population-based sample of sporadic hemiplegic migraine (SHM). Patients with SHM (n = 105) were identified in a nationwide search in the Danish population.
Jes Olesen   +2 more
exaly   +2 more sources

A Novel ATP1A2 Mutation in a Family with FHM Type II

Cephalalgia, 2006
Alfredo Costa   +2 more
exaly  

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