Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).

doi:10.1016/j.clinph.2020.01.020

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Article

Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 May 2020

Bonardi Claudia M, Mignot Cyril, Serratosa Jose M, Giraldez Beatriz G, Moretti Raffaella, Rudolf Gabrielle, Reale Chiara, Gellert Pia M, Johannesen Katrine M, Lesca Gaetan, Tassinari Carlo A, Gardella Elena, Møller Rikke S, Rubboli Guido

Abstract excerpt

OBJECTIVE: To investigate the clinical and EEG features of Encephalopathy with Status Epilepticus during slow Sleep (ESES) related to CNKSR2 pathogenic variants. METHODS: Detailed clinical history, repeated wakefulness/overnight sleep EEGs, brain MRI were collected in five patients, including one female, with CNKSR2-related ESES. RESULTS: Neurodevelopment in infancy was normal in two patients, delayed in three....

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PMID: 32197126
DOI: 10.1016/j.clinph.2020.01.020

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