Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.
Epilepsy Behav
; 21(2): 206-10, 2011 Jun.
Article
en En
| MEDLINE
| ID: mdl-21515089
ABSTRACT
We describe a 16-year-old woman with a rare POLG1 A467T/W748S genotype, with a wide range of neurological manifestations, including focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory-motor axonal neuropathy, and impairment of visual perception and cognitive function. Treatment of epilepsy in patients with a POLG1 compound heterozygous A467T/W748S genotype is very challenging; the epilepsy may preferentially respond to sodium channel blockers. The POLG1-related syndrome has a variable clinical course, and disease morbidity and mortality may be correlated with the genotype.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Lóbulo Parietal
/
Epilepsias Parciales
/
ADN Polimerasa Dirigida por ADN
/
Mutación
Límite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Epilepsy Behav
Asunto de la revista:
CIENCIAS DO COMPORTAMENTO
/
NEUROLOGIA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Estados Unidos