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Epilepsy in KCNH1-related syndromes Volume 18, issue 2, June 2016

  • [Bramswig et al., 2015] Bramswig N.C., Ockeloen C.W., Czeschik J.C. Splitting versus lumping: Temple-Baraitser and Zimmermann-Laband syndromes. Hum Genet. 2015;134:1089-1097.
  • [Budni et al., 2012] Budni J., Freitas A.E., Binfaré R.W. Role of potassium channels in the antidepressant-like effect of folic acid in the forced swimming test in mice. Pharmacol Biochem Behav. 2012;101:148-154.
  • [Campeau et al., 2014] Campeau P.M., Kasperaviciute D., Lu J.T. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014;13:44-58.
  • [Castori et al., 2013] Castori M., Valiante M., Pascolini G. Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. Eur J Med Genet. 2013;56:570-576.
  • [Haitin et al., 2013] Haitin Y., Carlson A.E., Zagotta W.N. The structural mechanism of KCNH-channel regulation by the eag domain. Nature. 2013;501:444-448.
  • [Kortüm et al., 2015] Kortüm F., Caputo V., Bauer C.K. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nat Genet. 2015;47:661-667.
  • [Mortensen et al., 2015] Mortensen L.S., Schmidt H., Farsi Z. KV10.1 opposes activity-dependent increase in Ca2+ influx into the presynaptic terminal of the parallel fibre-Purkinje cell synapse. J Physiol. 2015181-196.
  • [Nair et al., 2015] Nair L.D., Sagayaraj B., Kumar R. Absence of nails, deaf-mutism, seizures, and intellectual disability: a case report. J Clin Diagn Res. 2015;9:SD01-3.
  • [Pérez-Dueñas et al., 2011] Pérez-Dueñas B., Ormazábal A., Toma C. Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects. Arch Neurol. 2011;68:615-621. 5
  • [Rauch et al., 2012] Rauch A., Wieczorek D., Graf E. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380:1674-1682.
  • [Simons et al., 2015] Simons C., Rash L.D., Crawford J. Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nat Genet. 2015;47:73-77.
  • [Ufartes et al., 2013] Ufartes R., Schneider T., Mortensen L.S. Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice. Hum Mol Genet. 2013;22:2247-2262.
  • [Zhang et al., 2010] Zhang X., Bertaso F., Yoo J.W. Deletion of the potassium channel Kv12.2 causes hippocampal hyperexcitability and epilepsy. Nat Neurosci. 2010;13:1056-1058.