The epileptology of GNB5 encephalopathy.
GNB5
developmental and epileptic encephalopathy
epilepsy
intellectual disability
recessive
Journal
Epilepsia
ISSN: 1528-1167
Titre abrégé: Epilepsia
Pays: United States
ID NLM: 2983306R
Informations de publication
Date de publication:
11 2019
11 2019
Historique:
received:
29
04
2019
revised:
26
09
2019
accepted:
27
09
2019
pubmed:
22
10
2019
medline:
16
4
2020
entrez:
22
10
2019
Statut:
ppublish
Résumé
Pathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder with neonatal sinus bradycardia. Seizures or epilepsy occurred in 10 of 22 previously reported cases, including 6 children from one family. We delineate the epileptology of GNB5 encephalopathy. Our nine patients, including five new patients, were from seven families. Epileptic spasms were the most frequent seizure type, occurring in eight of nine patients, and began at a median age of 3 months (2 months to 3 years). Focal seizures preceded spasms in three children, with onset at 7 days, 11 days, and 4 months. One child presented with convulsive status epilepticus at 6 months. Three children had burst suppression on electroencephalography (EEG), three had hypsarrhythmia, and one evolved from burst suppression to hypsarrhythmia. Background slowing was present in all after age 3 years. Magnetic resonance imaging (MRI) showed cerebral atrophy in one child and cerebellar atrophy in another. All nine had abnormal development prior to seizure onset and ultimately had profound impairment without regression. Hypotonia was present in all, with contractures developing in two older patients. All individuals had biallelic pathogenic variants in GNB5, predicted by in silico tools to result in protein truncation and loss-of-function. GNB5 developmental and epileptic encephalopathy is characterized by epileptic spasms, focal seizures, and profound impairment.
Substances chimiques
GNB5 protein, human
0
GTP-Binding Protein beta Subunits
0
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e121-e127Subventions
Organisme : Health Research Council of New Zealand
Pays : International
Organisme : Italian Ministry of Health
Pays : International
Organisme : Cure Kids New Zealand
Pays : International
Organisme : Fidapa Apricena
Pays : International
Organisme : Daunia Plast, Scaringj and Stuppiello's Families
Pays : International
Organisme : NIH Clinical Center
ID : NS069605
Pays : International
Organisme : National Health and Medical Research Council
Pays : International
Organisme : Circolo Unione Apricena
Pays : International
Informations de copyright
Wiley Periodicals, Inc. © 2019 International League Against Epilepsy.
Références
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