JLE

Epileptic Disorders

MENU

A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures Volume 16, issue 2, June 2014

  • [Cestele et al., 2013] Cestele S., Labate A., Rusconi R. Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine. Epilepsia. 2013;54:927-935.
  • [Delgado-Escueta and Bourgeois, 2008] Delgado-Escueta A.V., Bourgeois B.F. Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all. Epilepsia. 2008;49 Suppl 9:13-24.
  • [Escayg et al., 2001] Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. Am J Hum Genet. 2001;68:866-873.
  • [Gargus and Tournay, 2007] Gargus J.J., Tournay A. Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. Pediatr Neurol. 2007;37:407-410.
  • [Gelisse et al., 2001] Gelisse P., Genton P., Thomas P., Rey M., Samuelian J.C., Dravet C. Clinical factors of drug resistance in juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry. 2001;70:240-243.
  • [Hirose et al., 2002] Hirose S., Okada M., Yamakawa K. Genetic abnormalities underlying familial epilepsy syndromes. Brain Dev. 2002;24:211-222.
  • [Hirose et al., 2013] Hirose S., Scheffer I.E., Marini C. SCN1A testing for epilepsy: application in clinical practice. Epilepsia. 2013;54:946-952.
  • [Miller and Sotero de Menezes, 1993] Miller I.O., Sotero de Menezes M.A., Pagon R.A., Adam M.P., Ardinger H.H., Bird T.D., Dolan C.R., Fong C.T., Smith R.J.H., Stephens K. SCN1A-Related Seizure Disorders. GeneReviews® [Internet]. Seattle (WA): University of Washington; 1993-20141993.
  • [Rasband, 2010] Rasband M.N. The axon initial segment and the maintenance of neuronal polarity. Nat Rev Neurosci. 2010;11:552-562.
  • [Scheffer and Berkovic, 1997] Scheffer I.E., Berkovic S.F. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain. 1997;120:479-490.
  • [Smith and Goldin, 1997] Smith R.D., Goldin A.L. Phosphorylation at a single site in the rat brain sodium channel is necessary and sufficient for current reduction by protein kinase A. J Neurosci. 1997;17:6086-6093.
  • [Yordanova et al., 2011] Yordanova I., Todorov T., Dimova P. One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. Neurosci Lett. 2011;494:180-183.
  • [Zuberi et al., 2011] Zuberi S.M., Brunklaus A., Birch R., Reavey E., Duncan J., Forbes G.H. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology. 2011;76:594-600.