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


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
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

Pagination

659-663

Auteurs

Caterina Zanus (C)

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste.

Paola Costa (P)

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste.

Flavio Faletra (F)

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste.

Luciana Musante (L)

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste.

Angelo Russo (A)

Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bologna.

Luisa Grazian (L)

Unit of Pediatric, Ca' Foncello Hospital, Treviso, Italy.

Marco Carrozzi (M)

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH