Referenced in: none

Automatically associated channels: ClC2 , ClC4 , Kv7.2 , Kv7.3

Title: Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy.

Authors: Giangennaro Coppola, Pierangelo Veggiotti, Emanuele Miraglia Del Giudice, Giulia Bellini, Francesca Longaretti, Maurizio Taglialatela, Antonio Pascotto

Journal, date & volume: Brain Dev., 2006 Mar , 28, 76-9

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/16168594

Abstract
The mutational analysis of potassium (KCNQ2, KCNQ3), sodium (SCN1A, SCN2A), and chloride (CLCN2) ion channels was performed in three children with typical features of the recently described syndrome of migrating partial seizures in infancy. Mutational analysis was performed by PCR and automatic sequencing. The coding regions, including the exon-intron boundaries, were amplified in the patients using appropriate primers sets. No mutations associated to migrating partial seizures have been found. Mutational screening of CLCN2 gene, revealed a homozygous mutation G2003C (exon 17), leading to a Ser/Thr substitution at the codon 668, in two of the three patients. The same variation has been found in 38 out of 100 control alleles. The identification of the genetic basis of this new epileptic encephalopathy requires further studies that might be enforced by familial cases.