Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation.
SPATA5
SPATA5 syndrome
epileptic encephalopathy
phenotype
Journal
Epileptic disorders : international epilepsy journal with videotape
ISSN: 1950-6945
Titre abrégé: Epileptic Disord
Pays: United States
ID NLM: 100891853
Informations de publication
Date de publication:
01 Oct 2020
01 Oct 2020
Historique:
pubmed:
17
10
2020
medline:
17
8
2021
entrez:
16
10
2020
Statut:
ppublish
Résumé
Heterozygous variants in the SPATA5 gene have recently been described to be associated with epileptic encephalopathy. As of 2019, 37 patients have been described in the published literature. We report a patient with a novel autosomal recessive pathogenic variant in SPATA5 and a clinical phenotype consistent with SPATA5 syndrome, including severe neurological impairment, intellectual disability (ID), generalized intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. The epileptic clinical features were characterized by infantile spasms associated with seizures with a complex ocular movement; a predominant involvement of the posterior cerebral area and cortical visual impairment were also noticed. This phenotype is highlighted with a review of the literature showing other patients with SPATA5-related disease. This report aims to contribute to further understanding phenotype/genotype correlations, which are fundamental for the interpretation of data made available by exome sequencing for the diagnosis of epileptic encephalopathies. [Published with video sequence].
Identifiants
pubmed: 33063670
pii: epd.2020.1204
doi: 10.1684/epd.2020.1204
doi:
Substances chimiques
SPATA5 protein, human
0
ATPases Associated with Diverse Cellular Activities
EC 3.6.4.-
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM