Results 141 to 150 of about 3,294 (160)
Evolutionary insights into Na<sup>+</sup>/K<sup>+</sup>-ATPase-mediated toxin resistance in the Crested Serpent-eagle preying on introduced cane toads in Okinawa, Japan. [PDF]
Tobe A +4 more
europepmc +1 more source
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria [PDF]
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
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
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]
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
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
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The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients
Brain and Development, 2023Lifang Dai, Xiaojuan Tian
exaly

