Epileptic Disorders
MENUEarly-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous missence variant Volume 22, issue 3, June 2020
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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
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9 - [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.
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8 - [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. SLC25A22
6 - [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
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2 - [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,