About: Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12

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rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) наукова стаття, опублікована у вересні 2004 (uk) im September 2004 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q58417098-B4E8DCEE-6894-45A8-B602-7B902B8D3BF2
publication date	2004-09-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q58417098-05120764-D6D5-4765-8FFA-88078E3D1006 wds:Q58417098-10FBF9F5-111B-44CD-AA36-5E4686FFB5E3 wds:Q58417098-170BB778-2089-4DFB-AC94-EDBACE2D4C01 wds:Q58417098-34042042-00CF-4FD7-B43A-9357F879213E wds:Q58417098-5E8B2BC5-547D-44E3-BD89-7E84B5DC0869 wds:Q58417098-9D02A469-5671-4E1B-88F0-61A77499B8D0 wds:Q58417098-DD0A747E-E601-4EDB-991E-EC7F8B066F06 wds:Q58417098-E0BACFB8-4621-49F8-B3F2-C06421DE83FA
cites work	A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24 Genetics of temporal lobe epilepsy Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features The DNA sequence of human chromosome 22 Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Genetic linkage studies in familial frontal epilepsy: Exclusion of the human chromosome regions homologous to the El-1 mouse locus
author name string	wds:Q58417098-194B04B9-4321-4270-B5D1-F35F61A1DB18 wds:Q58417098-6A860594-AED7-442B-982B-C8CAD97CA073 wds:Q58417098-754EA7D3-1FD6-45DB-9EFE-E3D16E96AF0B wds:Q58417098-9E127C9E-056C-4A5B-BC2F-D395448A3A9E wds:Q58417098-B5154F2E-0B93-4E72-A1E3-622BDE5F9BA8 wds:Q58417098-C6B3830E-119A-48D1-8977-5E7B45FF32CA wds:Q58417098-E79C1EF3-FCCE-4BF0-A6F4-73DFB0EBCF88
author name string	Lan Xiong Frederick Andermann Fernando Díaz-Otero Hilary A Phillips Mercedes Martín Yolanda Fernández-Bullido Francois Dubeau
rdfs:label	Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12 (en) Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12 (nl)
skos:prefLabel	Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12 (en) Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12 (nl)
name	Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12 (en) Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12 (nl)
author	wds:Q58417098-022E245F-428F-4A93-B6F8-F10EB7ECC4F0 wds:Q58417098-090A4A4A-9608-42E5-AE46-417C644868E9 wds:Q58417098-44D92797-D381-4688-B61F-5157BF8EF46D wds:Q58417098-48614849-DDEC-416C-947A-04ED72D27EF3 wds:Q58417098-595F1D12-51A7-4884-8AFA-EAB42DED8C99 wds:Q58417098-BA0B182C-2F0A-434D-8B90-2DD928F92F5E wds:Q58417098-BBC9E328-0B40-45B1-AA06-5185FCAE5CB7 wds:Q58417098-D53D5429-05DC-4899-9D3C-22342D11C034 wds:Q58417098-D81B4EFD-DCBC-4795-8851-11FF93DA4BDC wds:Q58417098-E7D5C47F-1B9D-42BC-8737-A82FD4891B38
author	Samuel Berkovic Ingrid Scheffer Pilar Gómez-Garre Massimo Pandolfo Iscia Lopes-Cendes John Frederick Mulley Robyn Wallace José M Serratosa Eva Andermann Richard Desbiens
title	wds:Q58417098-0AC79B09-0404-4223-9D36-69BB1690DC80
title	Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12 (en)
page(s)	wds:Q58417098-ABB28F0B-8CE4-4562-BEB5-577773519B0C
page(s)	1054-1060
instance of	wds:Q58417098-871AF0E8-543F-484F-9E2D-BC1C2E8A33C3
instance of	scholarly article
main subject	wds:Q58417098-056F705D-8BF1-4AAA-86B1-B7D2BC329CA8 wds:Q58417098-FB4261D1-8220-4B07-AC2E-B7E77FED75F3
main subject	epilepsy, familial focal, with variable foci familial partial epilepsy
PubMed ID	wds:Q58417098-FB23718D-D5FC-4E5D-9B76-FFAACEC8EF3A
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/15329069
PubMed ID	15329069
published in	wds:Q58417098-412D753F-15EF-4F4C-A6EB-AB75F4915FA5
published in	Epilepsia
issue	wds:Q58417098-23A5F714-30B8-4442-8E96-09A6A996DF1E
volume	wds:Q58417098-07366B49-3299-4257-8AB2-2DCD3D863F83
issue	9
volume	45
DOI	wds:Q58417098-F62AFAA4-70D0-4064-A45F-DCC9E7F957F4
DOI	http://dx.doi.org/10.1111/J.0013-9580.2004.30502.X
DOI	10.1111/J.0013-9580.2004.30502.X
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q58417098
is cites work of	Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study Mutations of DEPDC5 cause autosomal dominant focal epilepsies Genetics of epilepsy and relevance to current practice Mutations in DEPDC5 cause familial focal epilepsy with variable foci Genetic focal epilepsies: state of the art and paths to the future Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum DEPDC5 variants increase fibrosis progression in Europeans with chronic hepatitis C virus infection. Definition and diagnostic criteria of sleep-related hypermotor epilepsy The contribution of next generation sequencing to epilepsy genetics. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment. Epileptic spasms are a feature of DEPDC5 mTORopathy. Genetics of epilepsies Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs

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