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

Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.

American journal of medical genetics. Part A - 1 Dec 2016

Lozano Reymundo, Herman Kristin, Rothfuss Melanie, Rieger Hillary, Bayrak-Toydemir Pinar, Aprile Davide, Fruscione Floriana, Zara Federico, Fassio Anna

Abstract excerpt

TBC1D24-related disorders include a wide phenotypic ranging from mild to lethal seizure disorders, non-syndromic deafness, and composite syndromes such as DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). The TBC1D24 gene has a role in cerebral cortex development and in presynaptic neurotransmission. Here, we present a familial case of a lethal early-onset epileptic...

Read the complete abstract on PubMed

Topics

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

Share to Craniofacial Abnormalities
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to GTPase-Activating Proteins

Share to Hand Deformities, Congenital

Share to Hearing Loss, Sensorineural

Share to Nails, Malformed

Share to Siblings

Source

Identifiers

PMID: 27541164
DOI: 10.1002/ajmg.a.37933

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

Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.PMID 27541164Read ↗

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

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

TBC1D24 truncating mutation resulting in severe neurodegenerationSemantic 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 ↗

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

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

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

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.Semantic proximity Read ↗

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

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.Semantic proximity Read ↗

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

The genetic basis of DOORS syndrome: an exome-sequencing study.Semantic proximity Read ↗

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