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Ingo Helbig

Showing results (151-160 of 270) with videos related to

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Epilepsia|June 2, 2021
Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approachMark P Fitzgerald, Michael C Kaufman, Shavonne L Massey, et al.
Epilepsia|February 16, 2013
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriersSarah Weckhuysen, Philip Holmgren, Rik Hendrickx, et al.
Epilepsy Research|July 30, 2015
Investigation of GRIN2A in common epilepsy phenotypesDennis Lal, Sandra Steinbrücker, Julian Schubert, et al.
Molecular Genetics and Metabolism Reports|November 24, 2022
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signatureJessica R C Priestley, Lisa M Pace, Kuntal Sen, et al.
Brain Communications|November 26, 2020
Current knowledge of SLC6A1-related neurodevelopmental disordersKimberly Goodspeed, Eduardo Pérez-Palma, Sumaiya Iqbal, et al.
Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Epilepsia|January 9, 2013
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsyRikke S Møller, Yvonne G Weber, Laura L Klitten, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|May 5, 2019
Treatment Responsiveness in KCNT1-Related EpilepsyMark P Fitzgerald, Martina Fiannacca, Douglas M Smith, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGemma L Carvill, Jacinta M McMahon, Amy Schneider, et al.
Pageof 27

Showing results (151-160 of 270) with videos related to

Sort By:
Pageof 27
Epilepsia|June 2, 2021
Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approachMark P Fitzgerald, Michael C Kaufman, Shavonne L Massey, et al.
Epilepsia|February 16, 2013
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriersSarah Weckhuysen, Philip Holmgren, Rik Hendrickx, et al.
Epilepsy Research|July 30, 2015
Investigation of GRIN2A in common epilepsy phenotypesDennis Lal, Sandra Steinbrücker, Julian Schubert, et al.
Molecular Genetics and Metabolism Reports|November 24, 2022
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signatureJessica R C Priestley, Lisa M Pace, Kuntal Sen, et al.
Brain Communications|November 26, 2020
Current knowledge of SLC6A1-related neurodevelopmental disordersKimberly Goodspeed, Eduardo Pérez-Palma, Sumaiya Iqbal, et al.
Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Epilepsia|January 9, 2013
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsyRikke S Møller, Yvonne G Weber, Laura L Klitten, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|May 5, 2019
Treatment Responsiveness in KCNT1-Related EpilepsyMark P Fitzgerald, Martina Fiannacca, Douglas M Smith, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGemma L Carvill, Jacinta M McMahon, Amy Schneider, et al.
Pageof 27