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A Novel Nonsense Gene Variant Responsible for Early Infantile Epileptic Encephalopathy Type 39: Case Report

15 Jun 2020

Abstract excerpt

Early infantile epileptic encephalopathy (EIEE) is a severe form neurological disorder of age-related epileptic encephalopathy. Characteristically, it presents with tonic spasms within the first 3 months of life. The spasms can be generalized or focal and hemi-convulsions, it can be in clusters or singly which occur hundreds of times per day, not related to sleep cycle, leading to psychomotor impairment and...

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PMID: 32700846
DOI: 10.3923/pjbs.2020.973.976

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