Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy
Tài liệu tham khảo
Dravet, 1978, Les épilepsies graves de l'enfant, Vie Méd, 8, 543
Engel, 2001, International League Against Epilepsy (ILAE) Commission Report, Epilepsia, 42, 796, 10.1046/j.1528-1157.2001.10401.x
Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence, 3rd ed. Eastleigh, UK: John Libbey & Co. Ltd, 2002:81-103
Claes, 2001, De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy, Am J Hum Genet, 68, 1327, 10.1086/320609
Sugawara, 2002, Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy, Neurology, 58, 1122, 10.1212/WNL.58.7.1122
Ohmori, 2002, Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy, Biochem Biophys Res Commun, 295, 17, 10.1016/S0006-291X(02)00617-4
Claes, 2003, De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy, Human Mutation, 21, 615, 10.1002/humu.10217
Scheffer, 1997, Generalized epilepsy with febrile seizures plus, Brain, 120, 479, 10.1093/brain/120.3.479
Wallace, 1998, Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1-subunit gene SCN1B, Nat Genet, 19, 366, 10.1038/448
Singh, 2001, Severe myoclonic epilepsy of infancy, Epilepsia, 42, 837, 10.1046/j.1528-1157.2001.042007837.x
Sugawara, 2001, Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures, Neurology, 57, 703, 10.1212/WNL.57.4.703
Wallace, 2001, Mutant GABA A receptor γ2-subunit in childhood absence epilepsy and febrile seizures, Nat Genet, 28, 49, 10.1038/ng0501-49
Harkin, 2002, Truncation of the GABAA-receptor γ2- subunit in a family with generalized epilepsy with febrile seizures Plus, Am J Hum Genet, 70, 530, 10.1086/338710
Marini, 2003, Childhood absence epilepsy and febrile seizures, Brain, 126, 230, 10.1093/brain/awg018
Wallace, 2001, Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus, Am J Hum Genet, 68, 859, 10.1086/319516
Wallace, 2002, Generalized epilepsy with febrile seizures plus, Neurology, 58, 1426, 10.1212/WNL.58.9.1426
Escayg, 2000, Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2, Nat Genet, 24, 343, 10.1038/74159
Escayg, 2001, A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy, Am J Hum Genet, 68, 866, 10.1086/319524
Abou-Khalil, 2001, Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation, Neurology, 57, 2265, 10.1212/WNL.57.12.2265
Lossin, 2002, Molecular basis of an inherited epilepsy, Neuron, 34, 877, 10.1016/S0896-6273(02)00714-6
Spampanato, 2001, Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2, J Neurosci, 21, 7481, 10.1523/JNEUROSCI.21-19-07481.2001
Baulac, 2001, First genetic evidence of GABA A receptor dysfunction in epilepsy, Nat Genet, 28, 46, 10.1038/ng0501-46
Sugawara, 2001, A missense mutation of the Na+ channel αII-subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction, PNAS, 98, 6384, 10.1073/pnas.111065098
Ophoff, 1998, P/Q-type Ca2+ channel defects in migraine, ataxia and epilepsy. (Review), Trends Pharmacol Sci, 19, 121, 10.1016/S0165-6147(98)01182-1
Lopes-Cendes, 2000, A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2, Am J Hum Genet, 66, 698, 10.1086/302768
Baulac, 1999, A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33, Am J Hum Genet, 65, 1078, 10.1086/302593
Moulard, 1999, Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33, Am J Hum Genet, 65, 1396, 10.1086/302621
Singh, 2001, Severe myoclonic epilepsy of infancy, Epilepsia, 42, 837, 10.1046/j.1528-1157.2001.042007837.x
Doose, 1998, Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures, Neuropediatrics, 29, 229, 10.1055/s-2007-973567
Kanazawa, 2001, Refractory grand mal seizures with onset during infancy including severe myoclonic epilepsy in infancy, Brain Devel, 23, 749, 10.1016/S0387-7604(01)00279-0
Nieto-Barrera, 2000, Topiramate in the treatment of severe myoclonic epilepsy in infancy, Seizure, 9, 590, 10.1053/seiz.2000.0466
Chiron, 2000, Stiripentol in severe myoclonic epilepsy in infancy, Lancet, 356, 1638, 10.1016/S0140-6736(00)03157-3
Coppola, 2002, Topiramate as add-on drug in severe myoclonic epilepsy in infancy, Epilepsy Res, 49, 45, 10.1016/S0920-1211(02)00010-4
Alekov, 2001, Short communication. Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man, Eur J Neurosci, 13, 2171, 10.1046/j.0953-816x.2001.01590.x
Alekov AK, Rahman M, Mitrovic N, Lehmann-Horn F, Lerche H. Rapid Report. A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro. J Physiol 2000;529:533-9
Spampanato, 2003, Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v) 1.1 sodium channels, Neuroscience, 16, 37, 10.1016/S0306-4522(02)00698-X