John Libbey Eurotext

Hypermotor-tonic-spasms seizure sequence related to CDKL5 deficiency disorder: a typical case Article à paraître

Auteur
Pediatric Neurology Service, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children’s Hospital, Calgary, Canada, https://orcid.org/0000-0002-1112-7002
Correspondence:
Juan Pablo Appendino
Pediatric Neurology Service, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children’s Hospital, 28 Oki Drive NW, Calgary, AB, T3B 6A8, Canada

  We herein present a patient born at term without complications who had focal tonic and tonic-clonic seizures by the second month of life. Seizures first responded to phenobarbital. Global developmental delay and axial hypotonia were diagnosed at six months old (not sitting, smiling, or cooing). At nine months of age, a unique seizure sequence of hypermotor-tonic-spasms was noticed during a long-term video-electroencephalography (video-EEG), leading to the clinical suspicion of CDKL5 deficiency [...]

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