Epilepsy in KBG syndrome.

Autor: Auconi M; Child Neurology Unit, Systems Medicine Department, Tor Vergata University Hospital of Rome, Rome, Italy.; Child Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy., Serino D; Paediatric Neurology Department, Royal Aberdeen Children's Hospital, Aberdeen, UK., Digilio MC; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy., Gnazzo M; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, Rome, Italy., Conti M; Child Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy., Vigevano F; Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Fusco L; Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.
Jazyk: angličtina
Zdroj: Developmental medicine and child neurology [Dev Med Child Neurol] 2023 May; Vol. 65 (5), pp. 712-720. Date of Electronic Publication: 2022 Oct 04.
DOI: 10.1111/dmcn.15428
Abstrakt: Aim: To illustrate the epileptological and electroencephalographic (EEG) characteristics of a cohort of patients with KBG syndrome and epilepsy.
Method: Clinical history, age at epilepsy onset, seizure types, EEG findings, duration of epilepsy, and response to therapies were retrospectively reviewed in 11 patients (three females, eight males) with KBG syndrome.
Results: All detected genetic mutations were pathogenic and affected the C-terminal region at exon 9 of ANKRD11. One patient had 16q24.3 microdeletion including the ANKRD11 gene. Mean age at onset was 67 months. Epilepsy type was focal in five patients and generalized in four. Two patients had developmental and epileptic encephalopathies. Seizure freedom was obtained after a period varying between 15 days and 6 years.
Interpretation: In our patients, epilepsy appeared to respond well to treatment and, in some cases, to be self-limiting. The molecular characteristics of our patients' genetic abnormalities did not point towards any specific epilepsy hot spot. Epilepsy should be considered in the diagnostic work-up of patients with KBG syndrome.
What This Paper Adds: Some of the epilepsy types of KBG syndrome appear to be self-remitting. The epilepsy phenotypes associated with KBG syndrome are quite variable.
(© 2022 Mac Keith Press.)
Databáze: MEDLINE
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