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

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.

Epilepsia - 1 Aug 2018

Kinay Demet, Oliver Karen L, Tüzün Erdem, Damiano John A, Ulusoy Canan, Andermann Eva, Hildebrand Michael S, Bahlo Melanie, Berkovic Samuel F

Abstract excerpt

The clinical genetics of genetic generalized epilepsy suggests complex inheritance; large pedigrees, with multiple affected individuals, are rare exceptions. We studied a large consanguineous family from Turkey where extensive electroclinical phenotyping revealed a familial phenotype most closely resembling juvenile myoclonic epilepsy. For a subject to be considered affected (n = 14), a diagnostic...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 5
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy, Generalized

Share to Family Health

Share to Genetic Linkage

Share to Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels

Share to Turkey

Share to Young Adult

Source

Identifiers

PMID: 29974457
DOI: 10.1111/epi.14506

Genes

HCN1

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

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.PMID 29974457Read ↗

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.Semantic proximity Read ↗

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.Semantic proximity Read ↗

Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.Semantic proximity Read ↗

Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family.Semantic proximity Read ↗

Phenotypic analysis of 303 multiplex families with common epilepsies.Semantic proximity Read ↗

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.Semantic proximity Read ↗

Exploration of the genetic architecture of idiopathic generalized epilepsies.Semantic proximity Read ↗

A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11.Semantic proximity Read ↗

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.Semantic proximity Read ↗

Clinical and genetic analysis of a family with two rare reflex epilepsies.Semantic proximity Read ↗

[Linkage analysis of the 15q25-15q22 region in an extended multigenerational family segregating for idiopathic epilepsy].Semantic proximity Read ↗

A new locus for autosomal dominant generalized epilepsy associated with mild mental retardation on chromosome 3p.Semantic proximity Read ↗

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