Article
Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L.
Clinical EEG and neuroscience - 1 Sept 2023
Mir Ali, Amer Fawzia, Ali Mona, Alotaibi Wajd, Alotaibi Manar, Hedaithy Abdullah, Aldurayhim Fatimah, Hussain Fatimah, Bashir Shahid, Housawi Yousef
Abstract excerpt
Background. Biallelic pathogenic variants in the FRRS1L gene are now known to cause developmental and epileptic encephalopathy-37 (DEE37). It can also be associated with chorea and continuous spikes and waves during sleep (CSWS). CSWS is a rare age-related epileptic encephalopathy syndrome of childhood that is characterized by seizures, neurocognitive regression and electrical status epilepticus during sleep...
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