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Delineating the epilepsy phenotype of NGLY1 deficiency.
Levy, Rebecca J; Frater, Christina H; Gallentine, William B; Phillips, Jennifer M; Ruzhnikov, Maura R.
Afiliación
  • Levy RJ; Department of Child Neurology, Lucile Packard Children's Hospital, Stanford University, Stanford, California, USA.
  • Frater CH; Department of Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, California, USA.
  • Gallentine WB; Department of Child Neurology, Lucile Packard Children's Hospital, Stanford University, Stanford, California, USA.
  • Phillips JM; Department of Child Neurology, Lucile Packard Children's Hospital, Stanford University, Stanford, California, USA.
  • Ruzhnikov MR; Department of Child and Adolescent Psychiatry, Lucile Packard Children's Hospital, Stanford University, Stanford, California, USA.
J Inherit Metab Dis ; 45(3): 571-583, 2022 05.
Article en En | MEDLINE | ID: mdl-35243670
We delineated the phenotypic spectrum of epilepsy in individuals with NGLY1 deficiency from an international cohort. We collected detailed clinical and electroencephalographic data from 29 individuals with bi-allelic (likely) pathogenic variants in NGLY1 as part of an ongoing prospective natural history study. Participants were evaluated in-person at a single center and/or remotely. Historical medical records were reviewed. Published cases were included for comprehensive phenotyping. Of 29 individuals (mean 11.4 years, range 3-27 years), 17 (58.6%) participants had a history of epilepsy. Seizure onset was in early childhood (mean 43 months, range 2 months to 19 years). The most common seizure types were myoclonic and atonic. Epilepsy course was variable, but 35.2% (6/17) of participants with epilepsy achieved seizure freedom. The most common medications included levetiracetam, valproate, lamotrigine, and clobazam. Electroencephalogram (EEGs) were abnormal in 80% (12/15) of participants with or without epilepsy, although encephalopathy was uncommon. There was a trend in neurodevelopmental outcomes that participants with epilepsy had more developmental delays. In summary, epilepsy is common in NGLY1 deficiency. Over half of the participants had a history of epilepsy and nearly all had EEG abnormalities indicating an increased risk of epilepsy. This work expands the electroclinical phenotype of NGLY1 deficiency and supports a high clinical suspicion for seizures. Some of the more common seizure types (epileptic spasms, myoclonic, and atonic seizures) can be subtle and require counseling to ensure early recognition and treatment to ensure the best possible outcomes. Despite transient liver enzyme abnormalities in this disorder, hepatically metabolized medications were well tolerated.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Tipo de estudio: Observational_studies Límite: Child, preschool / Humans Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Tipo de estudio: Observational_studies Límite: Child, preschool / Humans Idioma: En Revista: J Inherit Metab Dis Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos