Yer Değiştiren (Gezici) Fokal Nöbetlerle Olan İnfantil Epilepsi (EIMFS)
Özet
Referanslar
Coppola G, Plouin P, Chiron C, Robain O, Dulac O. Migrating partial seizures in infancy: a malignant disorder with developmental arrest. Epilepsia. 1995;36:1017–24.
Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012;44:1255–9.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, et al. The genetic landscape of epilepsy of infancy with migrating focal seizures. Ann Neurol. 2019;86:821–31.
Coppola G. Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia. 2009;50(Suppl 5):49–51
McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS, et al. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain. 2013;136:1578–91
Kuchenbuch M, Barcia G, Chemaly N, Carme E, Roubertie A, Gibaud M, et al. KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP. Brain. 2019;142:2996–3008
Marsh E, Melamed SE, Barron T, Clancy RR. Migrating partial seizures in infancy: expanding the phenotype of a rare seizure syndrome. Epilepsia. 2005;46:568–72.
Caraballo RH, Fontana E, Darra F, Cassar L, Negrini F, Fiorini E, et al. Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients. J Child Neurol. 2008;23:497–506.
Kuchenbuch M, Benquet P, Kaminska A, Roubertie A, Carme E, de Saint MA, et al. Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures. Epilepsia. 2019;60:20–32
. Jocic-Jakubi B, Lagae L. Malignant migrating partial seizures in Aicardi syndrome. Dev Med Child Neurol. 2008;50:790–2
Lee EH, Yum MS, Jeong MH, Lee KY, Ko TS. A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. Brain Dev. 2012;34:768–72
Selioutski O, Seltzer LE, Burchfiel J, Paciorkowski AR, Erba G. Characteristic features of the interictal EEG background in 2 patients with malignant migrating partial epilepsy in infancy. J Clin Neurophysiol. 2015;32:e23–9
Moller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, et al. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia. 2015;56:e114–20.
Barcia G, Chemaly N, Kuchenbuch M, Eisermann M, GobinLimballe S, Ciorna V, et al. Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability. Neurol Genet. 2019;5:e363.
Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, et al. De novo KCNT1 mutations in early-onset epileptic encephalopathy. Epilepsia. 2015;56:e121–8.
Barba C, Darra F, Cusmai R, Procopio E, Dionisi Vici C, Keldermans L, et al. Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. Dev Med Child Neurol. 2016;58:1085–91
Referanslar
Coppola G, Plouin P, Chiron C, Robain O, Dulac O. Migrating partial seizures in infancy: a malignant disorder with developmental arrest. Epilepsia. 1995;36:1017–24.
Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012;44:1255–9.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, et al. The genetic landscape of epilepsy of infancy with migrating focal seizures. Ann Neurol. 2019;86:821–31.
Coppola G. Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia. 2009;50(Suppl 5):49–51
McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS, et al. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain. 2013;136:1578–91
Kuchenbuch M, Barcia G, Chemaly N, Carme E, Roubertie A, Gibaud M, et al. KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP. Brain. 2019;142:2996–3008
Marsh E, Melamed SE, Barron T, Clancy RR. Migrating partial seizures in infancy: expanding the phenotype of a rare seizure syndrome. Epilepsia. 2005;46:568–72.
Caraballo RH, Fontana E, Darra F, Cassar L, Negrini F, Fiorini E, et al. Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients. J Child Neurol. 2008;23:497–506.
Kuchenbuch M, Benquet P, Kaminska A, Roubertie A, Carme E, de Saint MA, et al. Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures. Epilepsia. 2019;60:20–32
. Jocic-Jakubi B, Lagae L. Malignant migrating partial seizures in Aicardi syndrome. Dev Med Child Neurol. 2008;50:790–2
Lee EH, Yum MS, Jeong MH, Lee KY, Ko TS. A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. Brain Dev. 2012;34:768–72
Selioutski O, Seltzer LE, Burchfiel J, Paciorkowski AR, Erba G. Characteristic features of the interictal EEG background in 2 patients with malignant migrating partial epilepsy in infancy. J Clin Neurophysiol. 2015;32:e23–9
Moller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, et al. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia. 2015;56:e114–20.
Barcia G, Chemaly N, Kuchenbuch M, Eisermann M, GobinLimballe S, Ciorna V, et al. Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability. Neurol Genet. 2019;5:e363.
Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, et al. De novo KCNT1 mutations in early-onset epileptic encephalopathy. Epilepsia. 2015;56:e121–8.
Barba C, Darra F, Cusmai R, Procopio E, Dionisi Vici C, Keldermans L, et al. Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. Dev Med Child Neurol. 2016;58:1085–91