Genetic analysis of PRRT2 for benign infantile epilepsy,infantile convulsions with choreoathetosis syndrome,and benign convulsions with mild gastroenteritis |
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| Authors: | Atsushi Ishii Sawa Yasumoto Yukiko Ihara Takahito Inoue Takako Fujita Noriko Nakamura Masaharu Ohfu Yushiro Yamashita Hideo Takatsuka Toshiaki Taga Rie Miyata Masahiro Ito Hiroshi Tsuchiya Taro Matsuoka Tetsuya Kitao Kiyotaka Murakami Wang-Tso Lee Sunao Kaneko Shinichi Hirose |
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| Institution: | 1. Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan;2. Central Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Fukuoka, Japan;3. Research Fellow of the Japan Society for the promotion of Science, Fukuoka University, Fukuoka, Japan;4. Department of Pediatrics and Child Health, School of Medicine, Kurume University, Kurume, Japan;5. Division of Pediatrics, Mimuro Hospital, Ikoma, Japan;6. Department of Pediatrics, Nagahama City Hospital, Nagahama, Japan;g Department of Pediatrics, Tokyo-kita Social Insurance Hospital, Tokyo, Japan;h Department of Pediatrics, Tokyo Metropolitan Bokuto Hospital, Tokyo, Japan;i Department of Neonatology, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan;j Department of Pediatrics, Toyonaka Municipal Hospital, Toyonaka, Japan;k Nakano Children’s Hospital, Osaka, Japan;l Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan;m Department of Neuropsychiatry, School of Medicine, Hirosaki University, Hirosaki, Japan |
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| Abstract: | Purpose: PRRT2 mutations were recently identified in benign familial infantile epilepsy (BFIE) and infantile convulsions with paroxysmal choreoathetosis (ICCA) but no abnormalities have so far been identified in their phenotypically similar seizure disorder of benign convulsions with mild gastroenteritis (CwG), while mutations in KCNQ2 and KCNQ3 have been recognized in benign familial neonatal epilepsy (BFNE). The aim of this study was to identify PRRT2 mutations in infantile convulsions in Asian families with BFIE and ICCA, CwG and BFNE. Methods: We recruited 26 unrelated Japanese affected with either BFIE or non-familial benign infantile seizures and their families, including three families with ICCA. A total of 17 Japanese and Taiwanese with CwG, 50 Japanese with BFNE and 96 healthy volunteers were also recruited. Mutations of PRRT2 were sought using direct sequencing. Results: Heterozygous truncation mutation (c.649dupC) was identified in 15 of 26 individuals with benign infantile epilepsy (52.1%). All three families of ICCA harbored the same mutation (100%). Another novel mutation (c.1012+2dupT) was found in the proband of a family with BFIE. However, no PRRT2 mutation was found in either CwG or BFNE. Conclusions: The results confirm that c.649dupC, a truncating mutation of PRRT2, is a hotspot mutation resulting in BFIE or ICCA regardless of the ethnic background. In contrast, PRRT2 mutations do not seem to be associated with CwG or BFNE. Screening for PRRT2 mutation might be useful in early-stage differentiation of BFIE from CwG. |
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| Keywords: | PRRT2 Benign familial infantile epilepsy (BFIE) Benign convulsions with mild gastroenteritis (CwG) Benign familial neonatal epilepsy (BFNE) Paroxysmal kinesigenic choreoathetosis (PKC) Infantile convulsion with paroxysmal choreoathetosis (ICCA) |
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