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

Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.

Epilepsia - 1 Aug 2012

Klein Karl Martin, O'Brien Terence J, Praveen Kavita, Heron Sarah E, Mulley John C, Foote Simon, Berkovic Samuel F, Scheffer Ingrid E

Abstract excerpt

We aimed to refine the phenotypic spectrum and map the causative gene in two families with familial focal epilepsy with variable foci (FFEVF). A new five-generation Australian FFEVF family (A) underwent electroclinical phenotyping, and the original four-generation Australian FFEVF family (B) (Ann...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to Electroencephalography
Share to Epilepsies, Partial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Infant

Share to Lod Score

Share to Microsatellite Repeats

Share to Pedigree

Source

Identifiers

PMID: 22780917
DOI: 10.1111/j.1528-1167.2012.03585.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22780917-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.PMID 22780917Read ↗

Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.Semantic proximity Read ↗

Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12Semantic proximity Read ↗

Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2Semantic proximity Read ↗

Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12.Semantic proximity Read ↗

Familial Partial Epilepsy with Variable Foci in a Dutch Family: Clinical Characteristics and Confirmation of Linkage to Chromosome 22qSemantic proximity Read ↗

Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders.Semantic proximity Read ↗

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.Semantic proximity Read ↗

[Clinical and genetic analysis of a Chinese pedigree affected with Familial focal epilepsy with variable foci due to variant of NPRL3 gene].Semantic proximity Read ↗

Genetic focal epilepsies: state of the art and paths to the future.Semantic proximity Read ↗

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.Semantic proximity Read ↗

Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24.Semantic proximity Read ↗

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.Semantic proximity Read ↗

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