Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females

• Published in: Clinical genetics Vol. 84; no. 1; pp. 82 - 85
• Main Authors: Bettella, E, Di Rosa, G, Polli, R, Leonardi, E, Tortorella, G, Sartori, S, Murgia, A
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.07.2013
• Subjects: ARX gene; Base Sequence; Child, Preschool; early-onset epileptic encephalopathy; Encephalitis; Epilepsy; Female; Genes; Genotype; Genotype & phenotype; Girls; Homeodomain Proteins - genetics; Humans; Molecular Sequence Data; Mutation; non-malformative phenotype; Pedigree; Phenotype; Sex Factors; Spasms, Infantile - diagnosis; Spasms, Infantile - genetics; Spasms, Infantile - physiopathology; Transcription Factors - genetics; X chromosome inactivation
• ISSN: 0009-9163; 1399-0004; 1399-0004
• DOI: 10.1111/cge.12034

Severe early‐onset epilepsy is due to a number of known causes, although a clear etiology is not identifiable in up to a third of all the cases. Pathogenic sequence variations in the ARX gene have been described almost exclusively in males, whereas heterozygous female relatives, such as mothers, sis...