1.
Eur J Hum Genet
; 15(8): 884-8, 2007 Aug.
Artículo
en Inglés
| MEDLINE
| ID: mdl-17473835
RESUMEN
Familial hemiplegic migraine (FHM) is a rare autosomal-dominant subtype of migraine with aura, associated with hemiparesis during the aura. Here we describe a unique FHM family in which two novel allelic missense mutations in the Na,K-ATPase gene ATP1A2 segregate in the proband with hemiplegic migraine. Both mutations show reduced penetrance in family members of the proband. Cellular survival assays revealed Na,K-ATPase dysfunction for both ATP1A2 mutants, indicating that both mutations are disease causative. This is the first case of compound heterozygosity for any of the known FHM genes.
Asunto(s)
Heterocigoto , Migraña con Aura/genética , ATPasa Intercambiadora de Sodio-Potasio/genética , Adolescente , Adulto , Secuencia de Aminoácidos , Niño , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Linaje
2.
Epilepsia
; 50(11): 2503-4, 2009 Nov.
Artículo
en Inglés
| MEDLINE
| ID: mdl-19874388