Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).
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DOI: 10.1016/j.ejmg.2020.103970
Abstract: Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant… read more here.
Keywords: epileptic encephalopathy; early onset; variant aimp1; burst suppression ... See more keywords