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rdf:type |
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lifeskim:mentions |
umls-concept:C0009952,
umls-concept:C0014548,
umls-concept:C0015576,
umls-concept:C0205210,
umls-concept:C0205453,
umls-concept:C0337810,
umls-concept:C0445356,
umls-concept:C0596611,
umls-concept:C1414920,
umls-concept:C1419856,
umls-concept:C1419857,
umls-concept:C1858671,
umls-concept:C2827424
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pubmed:issue |
2
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pubmed:dateCreated |
2004-1-23
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pubmed:abstractText |
We describe seven Italian families with generalized epilepsy with febrile seizures plus (GEFS+), in which mutations of SCN1A, SCN1B, and GABRG2 genes were excluded and compare their clinical spectrum with that of previously reported GEFS+ with known mutations.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/GABRG2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, GABA-A,
http://linkedlifedata.com/resource/pubmed/chemical/SCN1B protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Sodium Channels,
http://linkedlifedata.com/resource/pubmed/chemical/sodium channel, voltage-gated...,
http://linkedlifedata.com/resource/pubmed/chemical/sodium channel, voltage-gated...
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0013-9580
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pubmed:author |
pubmed-author:BonanniPaoloP,
pubmed-author:BordoLauraL,
pubmed-author:ButiDanielaD,
pubmed-author:FerrariAnna RitaAR,
pubmed-author:GuerriniRenzoR,
pubmed-author:HeronSarah ESE,
pubmed-author:MalcarneMichelaM,
pubmed-author:MariniCarlaC,
pubmed-author:MeiDavideD,
pubmed-author:MoroFrancescaF,
pubmed-author:ParriniElenaE,
pubmed-author:VeggiottiPierangeloP,
pubmed-author:VolzoneAnnaA,
pubmed-author:ZaraFedericoF
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pubmed:issnType |
Print
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pubmed:volume |
45
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
149-58
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pubmed:dateRevised |
2011-7-22
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pubmed:meshHeading |
pubmed-meshheading:14738422-Adolescent,
pubmed-meshheading:14738422-Adult,
pubmed-meshheading:14738422-Child,
pubmed-meshheading:14738422-Epilepsies, Partial,
pubmed-meshheading:14738422-Epilepsy, Absence,
pubmed-meshheading:14738422-Epilepsy, Generalized,
pubmed-meshheading:14738422-Family Health,
pubmed-meshheading:14738422-Female,
pubmed-meshheading:14738422-Humans,
pubmed-meshheading:14738422-Male,
pubmed-meshheading:14738422-Middle Aged,
pubmed-meshheading:14738422-Nerve Tissue Proteins,
pubmed-meshheading:14738422-Pedigree,
pubmed-meshheading:14738422-Phenotype,
pubmed-meshheading:14738422-Polymerase Chain Reaction,
pubmed-meshheading:14738422-Receptors, GABA-A,
pubmed-meshheading:14738422-Seizures, Febrile,
pubmed-meshheading:14738422-Sodium Channels
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pubmed:year |
2004
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pubmed:articleTitle |
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
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pubmed:affiliation |
Epilepsy, Neurophysiology, Neurogenetics Unit, IRCCS Fondazione Stella Maris, Pisa, Italy.
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pubmed:publicationType |
Journal Article
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