TY - JOUR
T1 - Lafora progressive myoclonus epilepsy
T2 - Disease course homogeneity in a genetic isolate
AU - Turnbull, Julie
AU - Kumar, Santosh
AU - Ren, Zhi Ping
AU - Muralitharan, Shanmugakonar
AU - Naranian, Taline
AU - Ackerley, Cameron A.
AU - Minassian, Berge A.
PY - 2008/2/1
Y1 - 2008/2/1
N2 - 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.
AB - 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.
KW - Founder effect
KW - Lafora disease
KW - Myoclonic epilepsies
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U2 - 10.1177/0883073807309245
DO - 10.1177/0883073807309245
M3 - Article
C2 - 18263761
AN - SCOPUS:38349102523
SN - 0883-0738
VL - 23
SP - 240
EP - 242
JO - Journal of child neurology
JF - Journal of child neurology
IS - 2
ER -