SEARCH

SEARCH BY CITATION

References

  • Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248249.
  • Baulac S, Baulac M. (2010) Advances on the genetics of Mendelian idiopathic epilepsies. Clin Lab Med 30:911929.
  • Brodie MJ, Covanis A, Gil-Nagel A, Lerche H, Perucca E, Sills GJ, White HS. (2011) Antiepileptic drug therapy: does mechanism of action matter? Epilepsy Behav 21:331341.
  • 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.
  • Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. (2009) Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37:e67.
  • Hoischen A, Gilissen C, Arts P, Wieskamp N, van der Vliet W, Vermeer S, Steehouwer M, de Vries P, Meijer R, Seiqueros J, Knoers NV, Buckley MF, Scheffer H, Veltman JA. (2010) Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat 31:494499.
  • Jones MA, Bhide S, Chin E, Ng BG, Rhodenizer D, Zhang VW, Sun JJ, Tanner A, Freeze HH, Hegde MR. (2011) Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. Genet Med 13:921932.
  • Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R, Noebels J. (2011) Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell 145:10361048.
  • Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE. (2009) Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain 132:810819.
  • Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topcu M, Gokben S, Alehan F, Lemke JR, Alber M, Palotie A, Kopra O, Lehesjoki AE. (2009) Novel KCTD7 mutations establish association to progressive myoclonus epilepsy. J Med Genet. in press.
  • Mamanova L, Coffey AJ, Scott CE, Kozarewa I, Turner EH, Kumar A, Howard E, Shendure J, Turner DJ. (2010) Target-enrichment strategies for next-generation sequencing. Nat Methods 7:111118.
  • Metzker ML. (2010) Sequencing technologies – the next generation. Nat Rev Genet 11:3146.
  • Miceli F, Soldovieri MV, Lugli L, Bellini G, Ambrosino P, Migliore M, del Giudice EM, Ferrari F, Pascotto A, Taglialatela M. (2009) Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures. Neurobiol Dis 34:501510.
  • Mole SE, Williams RE. (2010) Neuronal ceroid-lipofuscinoses. In Pagon RA, Bird TD, Dolan CR, Stephens K (Eds) GeneReviews [Internet]. University of Washington, Seattle, WA, pp. 2001.
  • Mulley JC, Mefford HC. (2011) Epilepsy and the new cytogenetics. Epilepsia 52:423432.
  • Muthugovindan D, Hartman AL. (2010) Pediatric epilepsy syndromes. Neurologist 16:223237.
  • Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallee L, Dagna Bricarelli F, Bianchi A, Zara F. (2003) Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology 60:19611967.
  • Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Muller U, Sander T. (2008) KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology 71:177183.
  • Ohmori I, Kahlig KM, Rhodes TH, Wang DW, George AL Jr. (2006) Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. Epilepsia 47:16361642.
  • Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R. (2006) Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain 129:18921906.
  • Scholl UI, Choi M, Liu T, Ramaekers VT, Hausler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP. (2009) Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A 106:58425847.
  • Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575576.
  • Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola J 2nd, Scherer S, Scheetz TE, Smith RJ. (2010) Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A 107:2110421109.
  • Steinfeld R, Steinke HB, Isbrandt D, Kohlschutter A, Gartner J. (2004) Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. Hum Mol Genet 13:24832491.
  • Van Bogaert P, Azizieh R, Desir J, Aeby A, De Meirleir L, Laes JF, Christiaens F, Abramowicz MJ. (2007) Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. Ann Neurol 61:579586.
  • Weber YG, Lerche H. (2008) Genetic mechanisms in idiopathic epilepsies. Dev Med Child Neurol 50:648654.