Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor

European Journal of Human Genetics

Volumn 8, Issue 12, 2000, Pages 994-997

  Del Giudice, Emanuele Miraglia ^a   Coppola, Giangennaro ^a   Scuccimarra, Goffredo ^a   Cirillo, Grazia ^a   Bellini, Giulia ^a   Pascotto, Antonio ^a,b  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b C Neuropsichiatria Infantile   (Italy)

Author keywords

BFNC; Idiopathic generalised epilepsy; Mutation analysis; Potassium channel; Voltage sensor

Indexed keywords

ARGININE; POTASSIUM CHANNEL; POTASSIUM ION;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL INHERITANCE; BENIGN CHILDHOOD EPILEPSY; CHANNEL GATING; CLINICAL ARTICLE; ELECTRIC POTENTIAL; EXCITABILITY; FEMALE; HUMAN; INFANT; ITALY; LONG QT SYNDROME; MALE; MEMBRANE CHANNEL; MISSENSE MUTATION; NEWBORN; PREDICTION; PRIORITY JOURNAL; SENSOR;

AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; EPILEPSY, BENIGN NEONATAL; FEMALE; HUMANS; INFANT; KCNQ2 POTASSIUM CHANNEL; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0034507233     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200570     Document Type: Article

References (20)

1. A potassium channel mutation in neonatal human epilepsy
2. A novel channel potassium gene, KCNQ2, is mutated in an inherited epilepsy of newborns
3. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
4. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrthymias
5. + channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrythmias
6. Eight potassium channel families revealed by the C. elegans genome project
7. + channels causes epilepsy
8. Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy
9. The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy
10. Structural and functional modularity of voltage-gated potassium channels
11. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions
12. + current due to a novel mutation in KCNQ2 causes neonatal convulsions
13. Benign familial neonatal convulsions
14. Atomic scale movement of the voltage-sensing region in a potassium channel measured via spectroscopy
15. KVLQT1 mutations in three families with familial or sporadic long QT syndrome
16. Novel KCNQ2 and HERG missense mutations in Dutch long-QT families
17. + channel mutations found in inherited cardiac arrhytmias
18. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss
19. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
20. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families