CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Adolescent
Adult
Age of Onset
Child
Child, Preschool
Developmental Disabilities
/ genetics
Epilepsies, Myoclonic
/ diagnosis
Epilepsy, Generalized
/ diagnosis
Exome
/ genetics
Female
Genetic Variation
Humans
Infant
Intellectual Disability
/ etiology
Male
Mutation
/ genetics
Phenotype
Status Epilepticus
/ diagnosis
Young Adult
CSNK2A1
CK2
MSNE
casein kinase II
generalized epilepsy
myoclonic seizures
myoclonic status epilepticus
Journal
Epilepsia
ISSN: 1528-1167
Titre abrégé: Epilepsia
Pays: United States
ID NLM: 2983306R
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
revised:
30
04
2021
received:
17
12
2020
accepted:
03
05
2021
pubmed:
28
5
2021
medline:
16
10
2021
entrez:
27
5
2021
Statut:
ppublish
Résumé
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures.
Identifiants
pubmed: 34041744
doi: 10.1111/epi.16931
pmc: PMC9189716
mid: NIHMS1809891
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e103-e109Subventions
Organisme : NICHD NIH HHS
ID : P50 HD105351
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001873
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG008900
Pays : United States
Informations de copyright
© 2021 International League Against Epilepsy.
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