id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-013139-b32xg7y7	Colak, Fatma Kurt	An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity	2020-10-10		.txt	text/plain	2783	147	44	Since the discovery of BRAT1 variants as the molecular etiology of lethal neonatal rigidity and multifocal seizure syndrome (RMFSL, OMIM 614498), these variants have also been identified in patients with milder clinical forms including neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS, OMIM 618056), epilepsy of infancy with migrating focal seizures (EIMFS), and congenital ataxia (CA). This study aims to examine the consequences and pathogenicity of a novel homozygous splice site variant in BRAT1 in a patient presenting with migrating focal seizures since birth without prominent rigidity. RMFSL was first described in 2012; later, BRAT1 variants were also reported in patients with non-lethal milder clinical forms, including neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS, 618056), epilepsy of infancy with migrating focal seizures (EIMFS), and congenital ataxia (CA) [7] [8] [9] [10] .	./cache/cord-013139-b32xg7y7.txt	./txt/cord-013139-b32xg7y7.txt