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Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous missence variant Volume 22, issue 3, June 2020

  • [Almalki et al., 2014] Almalki A., Alston C.L., Parker A. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Biochim Biophys Acta. 2014;1842:56-64.
  • [Barcia et al., 2012] Barcia G., Fleming M.R., Deligniere A. gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012;44:1255-1259. De novo11
  • [Caraballo et al., 2008] Caraballo R.H., Fontana E., Darra F. Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients. J Child Neurol. 2008;23:497-506.
  • [Carranza Rojo et al., 2011] Carranza Rojo D., Hamiwka L., McMahon J.M. mutations in migrating partial seizures of infancy. Neurology. 2011;77:380-383. De novo SCN1A4
  • [Cho et al., 2016] Cho J.S., Kim S.H., Kim H.Y. mutation and epilepsy: possible link with early-onset epileptic encephalopathy. Epilepsy Res. 2016;129:118-124. FARS2
  • [Coppola, 2009] Coppola G. Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia. 2009;50:49-51. 5
  • [Coppola, 2013] Coppola G. Malignant migrating partial seizures in infancy. Handb Clin Neurol. 2013;111:605-609.
  • [Coppola et al., 1995] Coppola G., Plouin P., Chiron C. Migrating partial seizures in infancy: a malignant disorder with developmental arrest. Epilepsia. 1995;36:1017-1024. 10
  • [Dhamija et al., 2013] Dhamija R., Wirrell E., Falcao G. Novel de mutation in a child with migrating focal seizures of infancy. Pediatr Neurol. 2013;49:486-488. novo SCN2A6
  • [Duan et al., 2018] Duan H., Peng J., Kessi M. mutation in one case of epilepsy of infancy with migrating focal seizures that evolved to infantile spasms. Child Neurol Open. 2018;5:1-4. De Novo KCNQ2
  • [Elo et al., 2012] Elo J.M., Yadavall S.S., Euro L. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet. 2012;21:4521-4529.
  • [Engel, 2001] Engel J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia. 2001;42:796-803.
  • [Freilich et al., 2011] Freilich E.R., Jones J.M., Gaillard W.D. Novel mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol. 2011;68:665-671. SCN1A5
  • [Howell et al., 2015] Howell K.B., McMahon J.M., Carvill G.L. encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015;85:958-966. SCN2A11
  • [Ishii et al., 2013] Ishii A., Shioda M., Okumura A. A recurrent mutation in two sporadic cases with malignant migrating partial seizures in infancy. Gene. 2013;531:467-471. KCNT12
  • [Kodera et al., 2015] Kodera H., Osaka H., Iai M. Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J Hum Genet. 2015;60:97-101.
  • [Lee et al., 2012] Lee E.H., Yum M.S., Jeong M.H. A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. Brain Dev. 2012;34:768-772. 9
  • [Leshinsky-Silver et al., 2017] Leshinsky-Silver E., Ling J., Wu J. Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous mutation. Neurogenetics. 2017;18:141-146. QARS
  • [Lim et al., 2016] Lim C.X., Ricos M.G., Dibbens L.M. mutations in seizure disorders: the phenotypic spectrum and functional effects. J Med Genet. 2016;53:217-225. KCNT14
  • [McTague et al., 2013] McTague A., Appleton R., Avula S. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain. 2013;136:1578-1591. 5
  • [McTague et al., 2018] McTague A., Nair U., Malhotra S. Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. Neurology. 2018;90:55-66.
  • [Milh et al., 2013] Milh M., Falace A., Villeneuve N. Novel compound heterozygous mutations in cause familial malignant migrating partial seizures of infancy. Hum Mutat. 2013;34:869-872. TBC1D246
  • [Møller et al., 2015] Møller R.S., Heron S.E., Larsen L.H. Mutations in cause a spectrum of focal epilepsies. Epilepsia. 2015;56:14-20. KCNT19
  • [Nakayama et al., 2017] Nakayama T., Wu J., Galvin-Parton P. Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Hum Mutat. 2017;38:1348-1354. 10
  • [Ngoh et al., 2016] Ngoh A., Bras J., Guerreiro R. mutations in a sibship with infantile spasms. Epilepsia. 2016;57:97-102. RARS2
  • [Nishri et al., 2016] Nishri D., Goldberg-Stern H., Noyman I. mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. Eur J Paediatr Neurol. 2016;20:412-417. RARS2
  • [Ohba et al., 2015] Ohba C., Kato M., Takahashi N. mutations in early-onset epileptic encephalopathy. Epilepsia. 2015;56:121-128. De novo KCNT19
  • [Poduri et al., 2012] Poduri A., Chopra S.S., Neilan E.G. Homozygous deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012;53:146-150. PLCB18
  • [Poduri et al., 2013] Poduri A., Heinzen E.L., Chitsazzadeh V. is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013;74:873-882. SLC25A226
  • [Raviglione et al., 2016] Raviglione F., Conte G., Ghezzi D. Clinical findings in a patient with mutations and early-infantile-encephalopathy with epilepsy. Am J Med Genet A. 2016;170:3004-3007. FARS2 11
  • [Rizzo et al., 2016] Rizzo F., Ambrosino P., Guacci A. Characterization of two de mutations in children with malignant migrating partial seizures in infancy. Mol Cell Neurosci. 2016;72:54-63. novo KCNT1
  • [Saito et al., 2017] Saito T., Ishii A., Sugai K. A missense mutation in found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures. Clin Genet. 2017;92:654-658. de novoSLC12A56
  • [Saitsu et al., 2016] Saitsu H., Watanabe M., Akita T. Impaired neuronal KCC2 function by biallelic mutations in migrating focal seizures and severe developmental delay. Sci Rep. 2016;20:30072. SLC12A56
  • [Scheffer et al., 2017] Scheffer I.E., Berkovic S., Capovilla G. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58:v512-v521. 4
  • [Selioutski et al., 2015] Selioutski O., Seltzer L.E., Burchfiel J., Paciorkowski A.R., Erba G. Characteristic features of the interictal EEG background in two patients with Malignant Migrating Partial Epilepsy in Infancy (MMPEI). J Clin Neurophysiol. 2015;32:23-29. 4
  • [Shimada et al., 2014] Shimada S., Hirano Y., Ito S. A novel mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures. Hum Genome Var. 2014;1:14027. KCNT1
  • [Simons et al., 2015] Simons C., Griffin L.B., Helman G. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. Am J Hum Genet. 2015;96:675-681. 4
  • [Stödberg et al., 2015] Stödberg T., McTague A., Ruiz A.J. Mutations in in epilepsy of infancy with migrating focal seizures. Nat Commun. 2015;3:1-9. SLC12A56
  • [Vantroys et al., 2017] Vantroys E., Larson A., Friederich M. New insights into the phenotype of FARS2 deficiency. Mol Genet Metab. 2017;122:172-181.
  • [Vernon et al., 2015] Vernon H.J., McClellan R., Batista D.A. Mutations in and non-fatal mitochondrial dysfunction in two siblings. Am J Med Genet A. 2015;167:1147-1151. FARS2
  • [Walker et al., 2016] Walker M.A., Mohler K.P., Hopkins K.W. Novel compound heterozygous mutations expand the recognized phenotypes of FARS2-linked disease. J Child Neurol. 2016;31:1127-1137.
  • [Yang et al., 2016] Yang Y., Liu W., Fang Z. A newly identified missense mutation in causes autosomal-recessive spastic paraplegia. Hum Mutat. 2016;37:165-169. FARS22
  • [Zhang et al., 2014] Zhang X., Ling J., Barcia G. Mutations in encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014;94:547-558. QARS,