title: Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy.
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.
authors.affiliation: Department of Pediatrics, Clinic of Child and Adolescent Neuropsychiatry, Second University of Naples, Naples, Italy. giangennaro.coppola@unina2.it
authors.forename: Giangennaro
authors.initials: G
authors.lastname: Coppola
authors.forename: Pierangelo
authors.initials: P
authors.lastname: Veggiotti
authors.forename: Emanuele Miraglia
authors.initials: EM
authors.lastname: Del Giudice
authors.forename: Giulia
authors.initials: G
authors.lastname: Bellini
authors.forename: Francesca
authors.initials: F
authors.lastname: Longaretti
authors.forename: Maurizio
authors.initials: M
authors.lastname: Taglialatela
authors.forename: Antonio
authors.initials: A
authors.lastname: Pascotto
mesh_terms: D000626:Aminopeptidases; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D004569:Electroencephalography / Q000379:methods; D010450:Endopeptidases / Q000235:genetics*; D004828:Epilepsies, Partial / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D051658:KCNQ2 Potassium Channel / Q000235:genetics*; D051659:KCNQ3 Potassium Channel / Q000235:genetics*; D008297:Male; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D012694:Serine / Q000235:genetics; D057057:Serine Proteases; D013912:Threonine / Q000235:genetics; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D018118:Chloride Channels; D051658:KCNQ2 Potassium Channel; D051659:KCNQ3 Potassium Channel; D000091346:Tripeptidyl-Peptidase 1; D013912:Threonine; D012694:Serine; D010450:Endopeptidases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases