Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Sindhu Viswanathan Karen L OliverBrigid M ReganAmy L SchneiderCandace T MyersMichele G MehaffeyAmy J LaCroixJayne AntonyRichard WebsterMichael CardamoneGopinath M SubramanianAnnie Ting Gee ChiuEugenia RozaRaluca I TeleanuStephen MaloneRichard J LeventerDeepak GillSamuel Frank BerkovicMichael S HildebrandBeatrice S GoadKatherine B HowellJoseph D SymondsAndreas BrunklausLynette G SadleirSameer M ZuberiHeather C MeffordIngrid Eileen Scheffer

Published in: Annals of neurology (2024)

DEE-SWAS and EE-SWAS have highly heterogeneous genetic and structural etiologies. Phenotypic analysis highlights valuable clinical differences between DEE-SWAS and EE-SWAS which inform clinical care and prognostic counseling. Our etiological findings pave the way for the development of precision therapies. ANN NEUROL 2024.

Keyphrases

healthcare
palliative care
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genome wide
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gene expression
copy number
depressive symptoms
pain management
health insurance