Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations. (March 2015)

• Record Type: Journal Article
• Authors: Stražišar, Barbara Gnidovec; Neubauer, David; Paro Panjan, Darja; Writzl, Karin
• Is Part Of: European journal of paediatric neurology. Volume 19:Number 2(2015:Mar.)
• Page Start: 251
• Page End: 256
• Publication Date: 2015-03
• Subjects: Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2014.12.011
• Languages: English
• ISSNs: 1090-3798

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0010"> <title id="sectitle0010">Abstract</title> <sec> <title id="sectitle0070">Background</title> <p id="abspara0010">Recent studies have shown that recessive mutations in the <italic>TBC1D24</italic> gene cause a variety of epilepsy syndromes, DOORS syndrome and nonsyndromic deafness.</p> </sec> <sec> <title id="sectitle0070q">Methods/Results</title> <p id="abspara0010a">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 <italic>TBC1D24</italic> gene: a novel missense mutation c.32A &gt; G (p.Asp11Gly) in exon 2 and a frameshift mutation c.1008delT (p.His336Glnfs*12) in exon 4.</p> </sec> <sec> <title id="sectitle0070w">Conclusion</title> <p id="abspara0010w">This report supports previous observations that mutations in <italic>TBC1D24</italic> cause diverse phenotypes. In fact, early-onset epileptic encephalopathy with sensorineural hearing loss is an additional phenotype observed in patients with recessive <italic>TBC1D24</italic> mutations.</p> </sec> </abstract>