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Article

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

Annals of neurology - 1 Nov 2024

Viswanathan Sindhu, Oliver Karen L, Regan Brigid M, Schneider Amy L, Myers Candace T, Mehaffey Michele G, LaCroix Amy J, Antony Jayne, Webster Richard, Cardamone Michael, Subramanian Gopinath M, Chiu Annie T G, Roza Eugenia, Teleanu Raluca I, Malone Stephen, Leventer Richard J, Gill Deepak, Berkovic Samuel F, Hildebrand Michael S, Goad Beatrice S, Howell Katherine B, Symonds Joseph D, Brunklaus Andreas, Sadleir Lynette G, Zuberi Sameer M, Mefford Heather C, Scheffer Ingrid E

Abstract excerpt

OBJECTIVE: To understand the etiological landscape and phenotypic differences between 2 developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS). METHODS: All patients fulfilled International League Against Epilepsy (ILAE) DEE-SWAS or EE-SWAS criteria with a Core cohort (n = 91) drawn...

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Identifiers

PMID: 39096015
DOI: 10.1002/ana.27041
PMCID: PMC11496008

Genes

ATP1A2
CACNA1A
FOXP1
GRIN1
KCNMA1
KCNQ3
PPFIA3
PUF60
SETD1B
ZBTB18

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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