Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS)
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference16 articles.
1. Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia;Accogli;Neurogenetics,2019
2. Unexplained early onset epileptic encephalopathy: exome screening and phenotype expansion;Allen;Epilepsia,2016
3. AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset;Armstrong;Neurogenetics,2014
4. Novel homozygous mutation of the AIMP1 gene: a milder neuroimaging phenotype with preservation of the deep white matter;BoAli;Pediatr. Neurol.,2019
5. The genetic landscape of epilepsy of infancy with migrating focal seizures;Burgess;Ann. Neurol.,2019
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5. Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant;Brain and Development;2021-04
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