Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Nature Genetics

Volumn 44, Issue 11, 2012, Pages 1188-1190

  Heron, Sarah E ^a   Smith, Katherine R ^b,c   Bahlo, Melanie ^b,c   Nobili, Lino ^d   Kahana, Esther ^e   Licchetta, Laura ^c   Oliver, Karen L ^c   Mazarib, Aziz ^f   Afawi, Zaid ^g   Korczyn, Amos ^g   Plazzi, Giuseppe ^h   Petrou, Steven ^c,i   Berkovic, Samuel F ^c   Scheffer, Ingrid E ^c,i   Dibbens, Leanne M ^a  

^a UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^b WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d OSPEDALE NIGUARDA CA GRANDA   (Italy)

^e BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^f TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^g TEL AVIV UNIVERSITY   (Israel)

^h UNIVERSITY OF BOLOGNA   (Italy)

ⁱ FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

NICOTINIC RECEPTOR ALPHA4; NICOTINIC RECEPTOR BETA2; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNT1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGGRESSION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; CATATONIA; CHILD; CHROMOSOME 9Q; CLINICAL ARTICLE; CLINICAL FEATURE; COMORBIDITY; FAMILIAL DISEASE; FRONTAL LOBE EPILEPSY; GENE MAPPING; GENETIC ASSOCIATION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; INTELLECTUAL IMPAIRMENT; LINKAGE ANALYSIS; MENTAL DISEASE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOSIS; SCHOOL CHILD;

EPILEPSY, FRONTAL LOBE; EXOME; HUMANS; INTERMEDIATE-CONDUCTANCE CALCIUM-ACTIVATED POTASSIUM CHANNELS; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84868196552     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2440     Document Type: Article

References (14)

1. Scheffer, I.E. et al. Brain 118, 61-73 (1995).
2. Heron, S.E., Scheffer, I.E., Berkovic, S.F., Dibbens, L.M. & Mulley, J.C. Neurotherapeutics 4, 295-304 (2007).
3. Rodrigues-Pinguet, N. et al. J. Physiol. (Lond.) 550, 11-26 (2003).
4. Aridon, P. et al. Am. J. Hum. Genet. 79, 342-350 (2006).
5. Hoda, J.-C. Mol. Pharmacol. 74, 379-391 (2008).
6. Derry, C.P. et al. Epilepsia 49, 2125-2129 (2008).
7. Reid, C.A., Berkovic, S.F. & Petrou, S. Prog. Neurobiol. 87, 41-57 (2009).
8. Khatami, R., Neumann, M., Schulz, H. & Kölmel, H.-W. J. Neurol. 245, 809-810 (1998).
9. Magnusson, A., Stordal, E., Brodtkorb, E. & Steinlein, O. Psychiatr. Genet. 13, 91-95 (2003).
10. Bhattacharjee, A., Gan, L. & Kaczmarek, L.K. J. Comp. Neurol. 454, 241-254 (2002).
11. Bhattacharjee, A., von Hehn, C.A., Mei, X. & Kaczmarek, L.K. J. Comp. Neurol. 484, 80-92 (2005).
12. Chen, H. et al. J. Neurosci. 29, 5654-5665 (2009).
13. Tamsett, T.J., Picchione, K.E. & Bhattacharjee, A. J. Neurosci. 29, 5127-5134 (2009).
14. Plazzi, G., Tinuper, P., Montagna, P., Provini, F. & Lugaresi, E. Sleep 18, 749-756 (1995).