About: Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

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About: Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2006 (fr) наукова стаття, опублікована в жовтні 2006 (uk) im Oktober 2006 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57588325-3C3D47DD-8EE5-44B6-9E34-B22A39C60165
publication date	2006-10-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q57588325-161E4305-C0BF-45E7-9882-315526E17A1C wds:Q57588325-1EB5C901-C2C9-49B6-A9C9-7986AC255F37 wds:Q57588325-370D6CAF-8F36-4441-9A07-9BF15F64471E wds:Q57588325-4B7E31DF-073A-4F18-8009-F9BCAAB09CBA wds:Q57588325-5B648DD8-5584-4601-9493-7B9FF5DE5A8C wds:Q57588325-7343EBC9-3D77-43D3-BFBF-175581FFAFF4 wds:Q57588325-8369844D-6C99-4858-AF2C-DD7A29A38293 wds:Q57588325-BB9F1383-41A0-4F4E-8919-C07AFCA304B0 wds:Q57588325-CA68ACC5-4FC3-4858-924E-ECFE80E64552 wds:Q57588325-D067D9D2-77D9-41C1-8619-467762780809 wds:Q57588325-D3326041-AD88-496A-B9FA-DBB2D2A594A1
cites work	De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures SCN1A mutations and epilepsy A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB) Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. Severe infantile epilepsies: molecular genetics challenge clinical classification. Genetic predisposition to severe myoclonic epilepsy in infancy.
author name string	wds:Q57588325-0FA1C2C5-DF78-4C59-B645-4A32BFBCE2BA wds:Q57588325-2BF468CD-FB40-4289-A09A-425D0988BDB7 wds:Q57588325-3DBC532D-80F7-4938-AD26-41846B749ACE wds:Q57588325-45EC426A-401B-4706-851B-B5CF131D6176 wds:Q57588325-46AEEE35-50D2-424D-94A0-75656C3C7BD5 wds:Q57588325-4CA88763-E7ED-4500-A9E5-D365B3F80C3D wds:Q57588325-5CB4BBD5-6C72-4B57-972A-624A36FC38B8 wds:Q57588325-647EC86B-7715-411F-AC4C-7E69A077EFFF wds:Q57588325-732C0BE0-8CE7-493C-8445-D7339F55B627 wds:Q57588325-86A7E803-1D49-4B5A-A2E0-5CC3D50ADB72 wds:Q57588325-B921FDBE-7AD0-4E28-A017-656A5700D297 wds:Q57588325-DA846D94-0B48-4684-B668-05407F1E3A09 wds:Q57588325-EEC7950D-F5CA-4B96-9901-8822B1C6EA07 wds:Q57588325-FAD97929-50A3-4EF5-BA67-CA8E56DE15F3
author name string	Giuseppe Capovilla Roberto Gaggero Marilena Vecchi Pierangelo Veggiotti Federico Vigevano Pasquale Striano Antonino Romeo Antonia Parmeggiani Maria Margherita Mancardi Elena Gennaro Amedeo Bianchi Francesca Madia Roberta Paravidino Sara Scapolan
rdfs:label	Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations (en) Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (nl)
skos:prefLabel	Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations (en) Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (nl)
name	Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations (en) Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (nl)
author	wds:Q57588325-37FF813E-9F6F-4FC1-9F86-085B1F132694 wds:Q57588325-3a4f9319-438a-69d9-fc1b-061714ea1f8f wds:Q57588325-5C437169-F420-4B48-A216-945E27D54C01 wds:Q57588325-6A9BB80B-8924-466E-AF18-59FC557010B8 wds:Q57588325-6C0A61E0-4834-417C-8171-1DE2AEF1F226 wds:Q57588325-6FB18D2D-3131-4D02-8C6C-8769B0B6D7D2 wds:Q57588325-7DC7D55B-A7E8-41E6-A1BC-B89CAA4C84D1 wds:Q57588325-7E8F49F7-175D-4DBC-8D30-0A6345837B21 wds:Q57588325-A75D6065-7FB1-447C-916F-9EC2827379AA wds:Q57588325-AF4DEA29-05E1-4C93-BB28-9AD583EA089C wds:Q57588325-CF0C27E0-7867-4A76-91B5-C1DB64BCF126 wds:Q57588325-F97AE649-54DF-4E35-A48E-0792D99EAD0C
author	Bernardo Dalla Bernardina Chiara Pantaleoni Enrico Bertini Federico Zara Renzo Guerrini Tiziana Granata Francesca Darra Giuseppe Gobbi Margherita Santucci Elena Freri Angela Pistorio Maurizio Elia
title	wds:Q57588325-3435B14B-47EE-44AE-9AF1-867BD798F7E4
title	Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations (en)
page(s)	wds:Q57588325-C4E02B19-8838-4CD7-9D56-85B788A3EBDF
page(s)	1629-1635
instance of	wds:Q57588325-220DE433-DC15-45A3-9895-FD17F60CDC91
instance of	scholarly article
main subject	wds:Q57588325-B742C4A7-32F5-420D-86A9-A51434A8DF38
main subject	myoclonic epilepsy
PubMed ID	wds:Q57588325-2D590228-C2CD-4D15-9BEA-1EFC948D455B
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/17054684
PubMed ID	17054684
published in	wds:Q57588325-49D0BCB5-937A-4AAF-80F2-B64D19348FA2
published in	Epilepsia

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