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References

  • Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK. (1998) A potassium channel mutation in neonatal human epilepsy. Science 279:403406.
  • Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, Soldovieri MV, Baschirotto C, Bresolin N, Dalla Bernardina B, Taglialatela M, Bassi MT. (2004) A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology 63:5765.
  • Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68:13271332.
  • Dedek K, Fusco L, Teloy N, Steinlein OK. (2003) Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res 54:2127.
  • DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ. (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491498.
  • Holland KD, Hallinan BE. (2010) What causes epileptic encephalopathy in infancy?: the answer may lie in our genes. Neurology 75:11321133.
  • Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gecz J. (2003) Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 72:14011411.
  • Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K. (2007) A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 81:361366.
  • Kearney JA, Yang Y, Beyer B, Bergren SK, Claes L, Dejonghe P, Frankel WN. (2006) Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. Hum Mol Genet 15:10431048.
  • Maljevic S, Naros G, Yalcin O, Blazevic D, Loeffler H, Caglayan H, Steinlein OK, Lerche H. (2011) Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures. Hum Mutat 32:E2283E2293.
  • Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L. (2005) Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet 76:334339.
  • Ozawa H, Kawada Y, Noma S, Sugai K. (2002) Oral high-dose phenobarbital therapy for early infantile epileptic encephalopathy. Pediatr Neurol 26:222224.
  • Rogawski MA. (2000) KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy. Trends Neurosci 23:393398.
  • Ronen GM, Rosales TO, Connolly M, Anderson VE, Leppert M. (1993) Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 43:13551360.
  • Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. (2008) De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 40:782788.
  • Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. (2012a) Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol 72:298300.
  • Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. (2012b) CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. Epilepsia 53:14411449.
  • Schmitt B, Wohlrab G, Sander T, Steinlein OK, Hajnal BL. (2005) Neonatal seizures with tonic clonic sequences and poor developmental outcome. Epilepsy Res 65:161168.
  • Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV, McHarg ML, Gagnon D, Rosales TO, Peiffer A, Anderson VE, Leppert M. (1998) A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 18:2529.
  • Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson VE, Sanguinetti MC, Leppert MF. (2003) KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain 126:27262737.
  • Steinlein OK, Conrad C, Weidner B. (2007) Benign familial neonatal convulsions: always benign? Epilepsy Res 73:245249.
  • Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gecz J. (2002) Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 30:441445.
  • Volkers L, Rook MB, Das JH, Verbeek NE, Groenewegen WA, van Kempen MJ, Lindhout D, Koeleman BP. (2009) Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions. Neurosci Lett 462:2429.
  • Wang K, Li M, Hakonarson H. (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164.
  • Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. (2012) KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 71:1525.