المؤلفون: Deprez L., Weckhuysen S., Peeters K., Deconinck T., Claeys KG., Claes LR., Suls A., Van Dyck T., André Luis Fernandes Palmini, Matthijs G., Van Paesschen W., De Jonghe P.

المصدر: Repositório Institucional PUCRS
Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)
instacron:PUC_RS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3056::4ebf7bf08ca6fe9be4d502c962d468f5

المؤلفون: Suls A, Velizarova R, Yordanova I, Deprez L, Van Dyck T, Wauters J, Guergueltcheva V, Claes LR, Kremensky I, Jordanova A, De Jonghe P

المصدر: Neurology; 7/6/2010, Vol. 75 Issue 1, p72-76, 5p

المؤلفون: Weckhuysen S; Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium., Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P

المصدر: Annals of neurology [Ann Neurol] 2012 Jan; Vol. 71 (1), pp. 15-25.

نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype*, Epilepsy, Benign Neonatal/*diagnosis , Epilepsy, Benign Neonatal/*genetics , KCNQ2 Potassium Channel/*genetics , Mutation/*genetics, Child ; Child, Preschool ; Epilepsy, Benign Neonatal/physiopathology ; Female ; Humans ; Male

المؤلفون: Claes LR; Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium., Deprez L, Suls A, Baets J, Smets K, Van Dyck T, Deconinck T, Jordanova A, De Jonghe P

المصدر: Human mutation [Hum Mutat] 2009 Oct; Vol. 30 (10), pp. E904-20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Databases, Genetic* , Point Mutation*, Nerve Tissue Proteins/*genetics , Sodium Channels/*genetics, Gene Rearrangement ; Humans ; NAV1.1 Voltage-Gated Sodium Channel ; Phenotype

المؤلفون: Singh NA; Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America. nsingh@genetics.utah.edu, Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White HS, Filloux F, Leppert MF

المصدر: PLoS genetics [PLoS Genet] 2009 Sep; Vol. 5 (9), pp. e1000649. Date of Electronic Publication: 2009 Sep 18.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*genetics , Epilepsy/*complications , Epilepsy/*genetics , Seizures, Febrile/*etiology , Seizures, Febrile/*genetics , Sodium Channels/*genetics, Abnormalities, Multiple/physiopathology ; Amino Acid Sequence ; Amino Acid Substitution/genetics ; Animals ; Base Sequence ; DNA Mutational Analysis ; Electroshock ; Epilepsy/physiopathology ; Female ; Gene Knock-In Techniques ; Humans ; Kindling, Neurologic/physiology ; Male ; Mice ; Molecular Sequence Data ; Mutation/genetics ; NAV1.1 Voltage-Gated Sodium Channel ; NAV1.7 Voltage-Gated Sodium Channel ; Nerve Tissue Proteins/genetics ; Pedigree ; Protein Subunits/genetics ; Seizures, Febrile/physiopathology ; Sequence Alignment ; Sodium Channels/chemistry ; Syndrome

المؤلفون: Suls A; Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium., Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE

المصدر: Annals of neurology [Ann Neurol] 2009 Sep; Vol. 66 (3), pp. 415-9.

نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy, Absence/*genetics , Glucose Transporter Type 1/*deficiency , Glucose Transporter Type 1/*genetics , Mutation, Missense/*genetics, Age of Onset ; Child ; Child, Preschool ; Diet, Ketogenic ; Epilepsy, Absence/diagnosis ; Epilepsy, Absence/diet therapy ; Female ; Glucose Transporter Type 1/metabolism ; Humans ; Male ; Treatment Outcome

المؤلفون: Patino GA; Department of Pharmacology and Program in Neuroscience, University of Michigan School of Medicine, Ann Arbor, Michigan 48109-5632, USA., Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O'Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL

المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2009 Aug 26; Vol. 29 (34), pp. 10764-78.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 8102140 Publication Model: Print Cited Medium: Internet ISSN: 1529-2401 (Electronic) Linking ISSN: 02706474 NLM ISO Abbreviation: J Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsies, Myoclonic/*genetics , Epilepsies, Myoclonic/*physiopathology , Polymorphism, Single Nucleotide/*genetics , Sodium Channels/*genetics, Animals ; Arginine/genetics ; Biophysics ; Cell Line, Transformed ; Cysteine/genetics ; DNA Mutational Analysis ; Disease Models, Animal ; Electric Stimulation ; Epilepsies, Myoclonic/mortality ; Female ; Green Fluorescent Proteins/genetics ; Hippocampus/pathology ; Humans ; In Vitro Techniques ; Infant ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Models, Molecular ; NAV1.1 Voltage-Gated Sodium Channel ; Nerve Tissue Proteins/deficiency ; Oocytes ; Sodium Channels/deficiency ; Temperature ; Transfection ; Twins ; Voltage-Gated Sodium Channel beta-1 Subunit ; Xenopus laevis

المؤلفون: Suls A; Neurogenetics Group,VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium., Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber Y, Lerche H, Afawi Z, Vandenberghe W, Korczyn AD, Berkovic SF, Ekstein D, Kivity S, Ryvlin P, Claes LR, Deprez L, Maljevic S, Vargas A, Van Dyck T, Goossens D, Del-Favero J, Van Laere K, De Jonghe P, Van Paesschen W

المصدر: Brain : a journal of neurology [Brain] 2008 Jul; Vol. 131 (Pt 7), pp. 1831-44. Date of Electronic Publication: 2008 Jun 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Chorea/*genetics , Epilepsy/*genetics , Glucose Transporter Type 1/*genetics, Adolescent ; Adult ; Blood Glucose/metabolism ; Chorea/complications ; Chorea/diagnostic imaging ; Chorea/diet therapy ; Chromosome Mapping ; DNA Mutational Analysis/methods ; Electroencephalography ; Epilepsy/complications ; Epilepsy/diagnostic imaging ; Epilepsy/diet therapy ; Exercise ; Female ; Glucose/cerebrospinal fluid ; Humans ; Lod Score ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pedigree ; Phenotype ; Positron-Emission Tomography

المؤلفون: Deprez L; Neurogenetics Group, Department of Molecular Genetics, VIB; Antwerpen, Belgium., Weckhuysen S, Peeters K, Deconinck T, Claeys KG, Claes LR, Suls A, Van Dyck T, Palmini A, Matthijs G, Van Paesschen W, De Jonghe P

المصدر: Epilepsia [Epilepsia] 2008 Mar; Vol. 49 (3), pp. 500-8. Date of Electronic Publication: 2007 Nov 19.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Print ISSN: 0013-9580 (Print) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy/*genetics , Migraine with Aura/*genetics , Mutation/*genetics , Sodium-Potassium-Exchanging ATPase/*genetics, Adult ; Age of Onset ; Amino Acid Sequence ; Belgium/epidemiology ; Comorbidity ; DNA Mutational Analysis ; Epilepsy/epidemiology ; Exons/genetics ; Family ; Female ; Gene Frequency/genetics ; Humans ; Male ; Middle Aged ; Migraine with Aura/epidemiology ; Pedigree ; Phenotype ; RNA Splice Sites/genetics ; White People/genetics

المؤلفون: Claeys KG; Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium. kristl.claeys@ua.ac.be, Claes LR, Van Goethem JW, Sercu S, Merregaert J, Lambert J, Van Marck EA, Parizel PM, De Jonghe P

المصدر: Seizure [Seizure] 2007 Jul; Vol. 16 (5), pp. 465-8. Date of Electronic Publication: 2007 Apr 02.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1059-1311 (Print) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy/*complications , Lipoid Proteinosis of Urbach and Wiethe/*complications , Migraine Disorders/*complications, Adult ; Female ; Humans ; Lipoid Proteinosis of Urbach and Wiethe/diagnosis ; Lipoid Proteinosis of Urbach and Wiethe/diagnostic imaging ; Lipoid Proteinosis of Urbach and Wiethe/genetics ; Magnetic Resonance Imaging ; Radiography