Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis
Journal
Brain and Development
Journal Volume
35
Journal Issue
6
Pages
524-530
Date Issued
2013
Author(s)
Ishii A.
Yasumoto S.
Ihara Y.
Inoue T.
Fujita T.
Nakamura N.
Ohfu M.
Yamashita Y.
Takatsuka H.
Taga T.
Miyata R.
Ito M.
Tsuchiya H.
Matsuoka T.
Kitao T.
Murakami K.
Kaneko S.
Hirose S.
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. ? 2012 The Japanese Society of Child Neurology.
Subjects
Benign convulsions with mild gastroenteritis (CwG); Benign familial infantile epilepsy (BFIE); Benign familial neonatal epilepsy (BFNE); Infantile convulsion with paroxysmal choreoathetosis (ICCA); Paroxysmal kinesigenic choreoathetosis (PKC); PRRT2
SDGs
Other Subjects
carbamazepine; lidocaine; membrane protein; phenytoin; pprt2 protein; unclassified drug; valproic acid; article; Asian; benign childhood epilepsy; benign convulsion with mild gastroenteritis; benign familial infantile epilepsy; child; clinical article; controlled study; convulsion; ethnic difference; female; gene identification; gene mutation; genetic screening; human; infantile convulsion with paroxysmal choreoathetosis; Japanese; male; nucleotide sequence; preschool child; school child; Taiwan; Adolescent; Age of Onset; Asian Continental Ancestry Group; Child; Child, Preschool; Chorea; Epilepsy, Benign Neonatal; Family Health; Female; Gastroenteritis; Genetic Testing; Humans; Male; Membrane Proteins; Mutation; Nerve Tissue Proteins; Phenotype
Type
journal article