SLC6A1 Epileptic Encephalopathy

Summarized by Plex Health
Last Updated: 09 May 2022

SLC6A1 epileptic encephalopathy is an autosomal leading hereditary disorder identified by the loss-of-function of one copy of the human SLC6A1 gene. Clinical manifestation of SLC6A1 epileptic encephalopathy is characterized by very early onset seizures and mild to severe intellectual special needs. Some patients have revealed intellectual special needs without seizures or related to focal epilepsy. In this cohort, cognitive growth was impaired in 33/34 subjects; 28/34 had mild to moderate intellectual special needs, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 patients with a mean start at 3. 7 years. Cognitive evaluation prior to epilepsy onset was readily available in 24/31 topics and was normal in 25%. Two patients had speech hold-up only, and 1 had extreme intellectual impairment. After epilepsy onset, cognition declined in 46% of patients. Seven additional patients had different forms of generalized epilepsy, and 2 had focal epilepsy. Electroencephalography searchings for were readily available in 27/31 patients revealing irregular ruptureds of diffuse 2. 5-3. 5 Hz spikes/polyspikes-and-slow waves in 25/31. Ataxia was observed in 7 out of 34 patients.

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