Genomic copy number variations at 17p13.3 and epileptogenesis.
Deletion of the terminal end of 17p is responsible for Miller-Dieker syndrome (MDS), which is characterized by lissencephaly, distinctive facial features, growth deficiency, and intractable seizures. Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation. In this study, it was suggested that the identified gain or loss of genomic copy numbers within 17p13.3 result in epileptogenesis and that triplication of LIS1 can cause symptomatic West syndrome.
Shimojima
Keiko
K
International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan.
Sugiura
Chitose
C
Takahashi
Hiroka
H
Ikegami
Mariko
M
Takahashi
Yukitoshi
Y
Ohno
Kousaku
K
Matsuo
Mari
M
Saito
Kayoko
K
Yamamoto
Toshiyuki
T
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase / Q000172:deficiency / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D019465:Craniofacial Abnormalities / Q000235:genetics; D004569:Electroencephalography; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000172:deficiency / Q000235:genetics*; D055815:Young Adult
D008869:Microtubule-Associated Proteins; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human