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Focal epilepsy due to de novo SCN1A mutation Volume 23, issue 3, June 2021

  • [1] Mulley J.C., Scheffer I.E., Petrou S., Dibbens L.M., Berkovic S.F., Harkin L.A. SCN1A mutations and epilepsy. Human Mutat. 2005;25:535-542.
  • [2] Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., De Jonghe P. mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. J Hum Genet. 2001;68:1327-1332. De novo
  • [3] Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., An-Gourfinkel I. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Gene. 2000;24:343-345.
  • [4] Wallace R.H., Scheffer I.E., Parasivam G., Barnett S., Wallace G.B., Sutherland G.R. Generalised epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology. 2002;58:1426-1429.
  • [5] Depienne C., Trouillard O., Saint-Martin C., Gourfinkel-An I., Bouteiller D., Carpentier W. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet. 2009;46:183-191.
  • [6] Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., Zuberi S.M. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain. 2007;130:843-852.
  • [7] Carranza Rojo D., Hamiwka L., McMahon J.M., Dibbens L.M., Arsov T., Suls A. SCN1A mutations in migrating partial seizures of infancy. Neurology. 2011;77:380-383. De novo
  • [8] McDonald C.L., Saneto R.P., Carmant L., Sotero de Menezes M.A. Focal seizures in patients with SCN1A mutations: response to treatment. J Child Neurol. 2017;32:170-176.
  • [9] Skjei K.L., Church E.W., Harding B.N., Santi M., Holland-Bouley K.D., Clancy R.R. Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy. J Neurosurg Pediatr. 2015;16:668-674.
  • [10] Rodda J.M., Scheffer I.E., McMahon J.M., Berkovic S.F., Graham H.K. Progressive gait deterioration in adolescents with Dravet syndrome. Arch Neurol. 2012;69:873-878.
  • [11] Tang S., Lin J.P., Hughes E., Siddiqui A., Lim M., Lascelles K. Encephalopathy and SCN1A mutations. Epilepsia. 2011;52:e26-e30.
  • [12] Catarino C.B., Liu J.Y., Liagkouras I., Gibbons V.S., Labrum R.W., Ellis R. Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain. 2011;134:2982-3010.
  • [13] de Lange I.M., Koudijs M.J., van ’t Slot R., Gunning B., Sonsma A.C.M., van Gemert L.J.J.M. Mosaicism of pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes. Epilepsia. 2018;59:690-703. de novo
  • [14] Mistry A.M., Thompson C.H., Miller A.R., Vanoye C.G., George A.L. Jr., Kearney J.A. Strain- and age-depedent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice. Neurobiol Dis. 2014;65:1-11.
  • [15] Barba C., Parrini E., Coras R., Galuppi A., Craiu D., Kluger G. Co-occurring malformations of cortical development and SCN1A gene mutations. Epilepsia. 2014;55:1009-1019.
  • [16] Le Gal F., Korff C.M., Monso-Hinard C., Mund M.T., Morris M., Malafosse A. A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation. Epilepsia. 2010;51:1915-1918.
  • [17] Striano P., Mancardi M.M., Biancheri R., Madia F., Gennaro E., Paravidino R. Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia. 2007;48:1092-1096.
  • [18] Bando Y., Hirano T., Tagawa Y. Dysfunction of KCNK potassium channels impairs neuronal migration in the developing mouse cerebral cortex. Cereb Cortex. 2014;24:1017-1029.
  • [19] Okumura A., Kurahashi H., Hirose S., Okawa N., Watanabe K. Focal epilepsy resulting from a SCN1A mutation. Neuropediatrics. 2007;38:253-256. de novo