Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.

Autor: Abdennadher M; Boston Medical Center, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA., Inati SK; Neurophysiology of Epilepsy Unit, NINDS, National Institutes of Health, Bethesda, Maryland, USA., Rahhal S; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Rockville, Maryland, USA., Khan O; Veterans Administration, Washington, District of Columbia, USA., Bartolini L; Hasbro Childrens' Hospital, Brown University, Providence, Rhode Island, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, NIMH, National Institutes of Health, Bethesda, Maryland, USA., Theodore W; Clinical Epilepsy Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA., Miller JS; Departments of Psychiatry and Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Porter FD; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Rockville, Maryland, USA., Bianconi S; Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Rockville, Maryland, USA.; Clinical Genetics, Kaiser Permanente Medical Group of Southern California, La Palma, California, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 337-345. Date of Electronic Publication: 2023 Oct 18.
DOI: 10.1002/ajmg.a.63418
Abstrakt: Seizures occur in up to 59% of boys with creatine transporter deficiency (CTD). While seizure phenotypes have been previously described, electroencephalogram (EEG) findings have only been reported in several case reports. In this prospective observational study, we report seizure characteristics and EEG findings in combination with neurobehavioral and SLC6A8 pathogenic variants in twenty males with CTD. Eighteen study participants (SP) underwent video-EEG, and seven had follow-up EEG recordings. Seizures typically occurred by age of 2 years. Thirteen (65%) had non-febrile seizures, requiring anti-seizure medications in nine. Four had febrile seizures. Seizures were bilateral tonic-clonic in 7 SP and focal impaired awareness in 5 SP; often responding to 1 to 2 antiseizure medications. EEG showed slowing in 5 SP, beta activity in 6 SP, and focal/multifocal, and/or generalized epileptiform activity in 9 SP. Follow-up EEGs in 7 SP showed emergence of epileptiform activity in 1 SP, and increased activity in 2 SP. In conclusion, seizures were frequent in our cohort but tended to respond to antiseizure medications. Longitudinal follow up provided further insight into emergence of seizures and EEG abnormalities soliciting future studies with long term follow up. Biomarkers of epileptogenicity in CTD are needed to predict seizures in this population.
(© 2023 Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.)
Databáze: MEDLINE
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