1.
J Child Neurol
; 23(2): 240-2, 2008 Feb.
Artículo
en Inglés
| MEDLINE
| ID: mdl-18263761
RESUMEN
Lafora epilepsy is characterized by starch formation in brain and skin and is diagnosed by skin biopsy or mutation detection. It has variable ages of onset (6-19 years) and death (18-32 years) even with the same mutation, likely due to extramutational factors. The authors identified 14 Lafora epilepsy patients in the genetic isolate of tribal Oman. The authors show that in this homogeneous environment and gene pool, the same mutation, EPM2B-c.468-469delAG, results in highly uniform ages of onset (14 years) and death (21 years). Biopsy, on the other hand, was not homogeneous (positive in 4/5 patients) and is, therefore, less sensitive than mutation testing.
Asunto(s)
Proteínas Portadoras/genética , Enfermedad de Lafora/genética , Grupos de Población/genética , Adolescente , Adulto , Edad de Inicio , Proteínas Portadoras/metabolismo , Consanguinidad , Análisis Mutacional de ADN , Muerte , Humanos , Enfermedad de Lafora/etnología , Enfermedad de Lafora/mortalidad , Enfermedad de Lafora/fisiopatología , Omán , Piel/metabolismo , Ubiquitina-Proteína Ligasas
2.
Pediatr Neurol
; 71: 84-85, 2017 Jun.
Artículo
en Inglés
| MEDLINE
| ID: mdl-28408151