Premium
Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation *
Author(s) -
Zanus Caterina,
Costa Paola,
Faletra Flavio,
Musante Luciana,
Russo Angelo,
Grazian Luisa,
Carrozzi Marco
Publication year - 2020
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2020.1204
Subject(s) - ictal , epilepsy , intellectual disability , microcephaly , exome sequencing , epileptic spasms , medicine , phenotype , sensorineural hearing loss , neuroscience , pediatrics , hearing loss , psychology , audiology , genetics , biology , psychiatry , gene
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 ].