Article

Epilepsy of Infancy With Migrating Focal Seizures (EIMFS): Expansion of Clinical Phenotypic And Genotypic Spectra

2021-12-06

Abstract excerpt

EIMFS is a rare early infantile epileptic encephalopathy with unknown etiology and poor prognosis. This study included 36 patients who were diagnosed with EIMFS. 17/36 cases had causative variants across 11 genes, including 6 novel EIMFS genes: PCDH19 , ALDH7A1 , DOCK6 , PRRT2 , ALG1 and ATP7A . 13/36 patients had ineffective seizure control, 14/36 patients had severe retardation and 6/36 patients died. Of them, t...

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Literature Corpus work: 541b32c8-b247-5529-a2e4-565b0f138db4
DOI: 10.21203/rs.3.rs-1112666/v1

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