Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.
Eur J Paediatr Neurol
; 40: 69-72, 2022 Sep.
Article
in En
| MEDLINE
| ID: mdl-36031702
ABSTRACT
Alpha-thalassemia X-linked intellectual disability syndrome (ATRX) is a rare genetic condition caused by mutations in the ATRX gene characterized by distinctive dysmorphic features, alpha thalassemia, mild-to-profound intellectual disability, and epilepsy, reported in nearly 30% of the patients. To date, different types of seizures are reported in patients with ATRX syndrome including either clonic, tonic, myoclonic seizures or myoclonic absences. However, an accurate analysis of electroencephalographic features is lacking in literature. We report on the epileptic and electroencephalographic phenotype of seven unpublished patients with ATRX syndrome, highlighting the presence of a peculiar EEG pattern characterized by diffuse background slowing with superimposed low voltage fast activity. Likewise, we also review the available literature on this topic.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Alpha-Thalassemia
/
Mental Retardation, X-Linked
/
Epilepsy
/
Intellectual Disability
Type of study:
Diagnostic_studies
/
Etiology_studies
Limits:
Humans
Language:
En
Journal:
Eur J Paediatr Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2022
Document type:
Article
Affiliation country:
Italy