Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2015

Stražišar Barbara Gnidovec, Neubauer David, Paro Panjan Darja, Writzl Karin

Abstract excerpt

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....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain Diseases
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsies, Myoclonic

Share to Epilepsy, Tonic-Clonic

Share to Fatal Outcome

Share to GTPase-Activating Proteins

Share to Hearing Loss, Sensorineural

Share to Muscle Hypotonia

Source

Identifiers

PMID: 25557349
DOI: 10.1016/j.ejpn.2014.12.011

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.PMID 25557349Read ↗

Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.Semantic proximity Read ↗

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilitySemantic proximity Read ↗

Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.Semantic proximity Read ↗

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Semantic proximity Read ↗

[Clinical phenotypes of TBC1D24 gene related epilepsy].Semantic proximity Read ↗

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.Semantic proximity Read ↗

Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.Semantic proximity Read ↗

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.Semantic proximity Read ↗

[Clinical features and gene analysis of TBC1D24 gene mutation related early-onset focal myoclonic epilepsy].Semantic proximity Read ↗

TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.Semantic proximity Read ↗

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.Semantic proximity Read ↗

TBC1D24 truncating mutation resulting in severe neurodegenerationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.