Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures

Epilepsy and Behavior Case Reports

Volumn 1, Issue 1, 2013, Pages 35-38

  Pascual, Franchette T ^a   Wierenga, Klaas J ^a   Ng, Yu Tze ^a  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

20q13.33 deletion; Benign familial neonatal seizures; CHRNA4; KCNQ2

Indexed keywords

ETIRACETAM; NICOTINIC RECEPTOR ALPHA4; OXCARBAZEPINE; PHENOBARBITAL; POTASSIUM CHANNEL KCNQ2; THYROTROPIN; TOPIRAMATE; ZONISAMIDE;

ARTICLE; ASTHMA; BENIGN FAMILIAL NEONATAL SEIZURE; CASE REPORT; CHILD; CHRNA4 GENE; CHROMOSOME 13Q; CHROMOSOME 20Q; CHROMOSOME 9P; DEVELOPMENTAL DISORDER; ECZEMA; ELECTROENCEPHALOGRAM; FAILURE TO THRIVE; FAMILY HISTORY; FEMALE; FEVER; GAZE; GENE DELETION; GENE DUPLICATION; GENETIC ASSOCIATION; GENETIC SCREENING; HEARING IMPAIRMENT; HISPANIC; HUMAN; INFANT; INFANTILE SPASM; KCNQ2 GENE; MALE; MATERNAL DISEASE; MEGALOCYTOSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OTITIS MEDIA; PEDIGREE ANALYSIS; PERINATAL PERIOD; PRESCHOOL CHILD; REMISSION; SEIZURE; SHORT STATURE; SPIKE WAVE; SYSTOLIC HEART MURMUR; VACCINATION REACTION;

EID: 84876374927     PISSN: 22133232     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ebcr.2013.01.004     Document Type: Article

References (10)

1. Benign neonatal seizures. Gene reviews [internet] 1993, University of Washington, Seattle, Seattle (WA), [cited 2013 Jan 14. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1116/]. R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.).
2. Borgatti R., Zucca C., Cavallini A., et al. A novel mutation in KCNQ2 associated with BFNS, drug resistant epilepsy, and mental retardation. Neurology 2004, 63(1):57-65.
3. Dedek K., Lucia F., Teloy N., Steinlein O. Neonatal convulsions and epileptic encephalopathy in an Italian family with missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res 2003, 54(1):21-27.
4. Kurahashi H., Wang J.-w., Ishii A., et al. Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. Neurology 2009, 73(15):1214-1217.
5. Bena F., Bottani A., Marcelli F., et al. A de novo 1.1-1.6Mb subteloremic deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features. Am J Med Genet 2007, 143A(16):1894-1899.
6. Ardalan A., Prieur M., Choiset A., et al. Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of three break rearrangement of chromosome 20. Am J Med Genet 2005, 138A(3):288-293.
7. Mefford H.C., Cook J., Gospe S.M. Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. Am J Med Genet 2012, 158A(12):3190-3195.
8. Autosomal dominant nocturnal frontal lobe epilepsy. Gene reviews [internet] 1993, University of Washington, Seattle, Seattle (WA), [cited 2013 Jan 14. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1116/]. R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.).
9. Weckhuysen S., Mandelstam S., Suls A., et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012, 71(1):15-25.
10. Traylor R.N., Bruno D.L., Burgess T., et al. A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. PLoS One 2010, 5(8):e12462.