Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation

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 co...

Full description

Saved in:
Bibliographic Details
Published in:Epileptic disorders 2020-10, Vol.22 (5), p.659-663
Main Authors: Zanus, Caterina, Costa, Paola, Faletra, Flavio, Musante, Luciana, Russo, Angelo, Grazian, Luisa, Carrozzi, Marco
Format: Article
Language:English
Subjects:
Encephalopathy
Epilepsy
epileptic encephalopathy
Genotype & phenotype
Genotypes
Hearing loss
Infants
Intellectual disabilities
Literature reviews
Microencephaly
Neurological complications
phenotype
Phenotypes
Seizures
SPATA5
SPATA5 syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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].
ISSN:1294-9361
1950-6945
DOI:10.1684/epd.2020.1204