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Eur J Paediatr Neurol. 2015 Mar;19(2):251-6. doi: 10.1016/j.ejpn.2014.12.011. Epub 2014 Dec 20.

Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.

Author information

1
Department of Child, Adolescent & Developmental Neurology, University Children's Hospital, Ljubljana, Slovenia.
2
Department of Neonatology, University Children's Hospital, Ljubljana, Slovenia.
3
Institute of Medical Genetics, University Medical Centre, Ljubljana, Slovenia. Electronic address: karinwritzl@gmail.com.

Abstract

BACKGROUND:

Recent studies have shown that recessive mutations in the TBC1D24 gene cause a variety of epilepsy syndromes, DOORS syndrome and nonsyndromic deafness.

METHODS/RESULTS:

We report on two siblings with hypotonia, early-onset epileptic encephalopathy, and severe developmental delay. The patients presented with clonic and myoclonic jerks within 1 h after birth. The seizures were resistant to treatment. Audiologic examination showed bilateral sensorineural hearing loss in both siblings. Genetic analysis revealed compound heterozygous mutations in the TBC1D24 gene: a novel missense mutation c.32A > G (p.Asp11Gly) in exon 2 and a frameshift mutation c.1008delT (p.His336Glnfs*12) in exon 4.

CONCLUSION:

This report supports previous observations that mutations in TBC1D24 cause diverse phenotypes. In fact, early-onset epileptic encephalopathy with sensorineural hearing loss is an additional phenotype observed in patients with recessive TBC1D24 mutations.

KEYWORDS:

Deafness; Early-onset epileptic encephalopathy; Myoclonic seizures; TBC1D24 gene

PMID:
25557349
DOI:
10.1016/j.ejpn.2014.12.011
[Indexed for MEDLINE]

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