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.
Keywords
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Article info
Publication history
Published online: October 16, 2012
Accepted:
September 11,
2012
Received in revised form:
September 5,
2012
Received:
June 5,
2012
Identification
Copyright
© 2012 The Japanese Society of Child Neurology. Published by Elsevier Inc. All rights reserved.
