A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

Epilepsia

Volumn 56, Issue 2, 2015, Pages e15-e20

  Miceli, Francesco ^a   Striano, Pasquale ^b   Soldovieri, Maria Virginia ^c   Fontana, Antonina ^d   Nardello, Rosaria ^d   Robbiano, Angela ^e   Bellini, Giulia ^f   Elia, Maurizio ^g   Zara, Federico ^e   Taglialatela, Maurizio ^a,c,h   Mangano, Salvatore ^d  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF MOLISE   (Italy)

^d UNIVERSITY OF PALERMO   (Italy)

^e G GASLINI INSTITUTE   (Italy)

^f SECOND UNIVERSITY OF NAPLES   (Italy)

^g OASI RESEARCH INSTITUTE IRCCS   (Italy)

^h CSIC UPV Unidad de Biofisica UBF   (Spain)

Author keywords

Benign familial neonatal seizures; Cognitive impairment; Epilepsy; Genotype phenotype correlations; KCNQ; Mutagenesis; Voltage gated potassium channels

Indexed keywords

ARGININE; CARBAMAZEPINE; LEUCINE; PHENOBARBITAL; POTASSIUM CHANNEL KCNQ3; VALPROIC ACID; POTASSIUM CHANNEL KCNQ2;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; AROUSAL; ARTICLE; ATAXIA; BIRTH WEIGHT; BODY HEIGHT; CHILD; CLINICAL ARTICLE; CLONIC SEIZURE; CODON; DROWSINESS; DRUG WITHDRAWAL; DYSMETRIA; ELECTROENCEPHALOGRAM; FAMILIAL DISEASE; FAMILY; FATHER; FEMALE; FOCAL EPILEPSY; FUNCTIONAL DISEASE; GENE MUTATION; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HUMAN; HUMAN CELL; HYPERACTIVITY; INTELLECTUAL ASSESSMENT; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LANGUAGE DISABILITY; MALE; MILD COGNITIVE IMPAIRMENT; NYSTAGMUS; ONSET AGE; OPPOSITIONAL DEFIANT DISORDER; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHOOL CHILD; SIBLING; SLEEP; SPIKE WAVE; TONIC CLONIC SEIZURE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; INTELLECTUAL DISABILITY; MUTATION; PEDIGREE; PROCEDURES; SEIZURE;

CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INTELLECTUAL DISABILITY; KCNQ2 POTASSIUM CHANNEL; KCNQ3 POTASSIUM CHANNEL; MALE; MUTATION; PEDIGREE; SEIZURES;

EID: 84923359250     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12887     Document Type: Article

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