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1. Full Text Commentary: The genetic architecture of the epilepsies, as told by 8500 gene panels
by Helbig, Ingo
Epilepsia (Copenhagen), ISSN 0013-9580, 05/2018, Volume 59, Issue 5, pp. 1072 - 1073
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Epilepsy - genetics | Neurodevelopmental Disorders - genetics | Genetic Testing | Humans | Epilepsy | Index Medicus
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2. Full Text Genetic Causes of Generalized Epilepsies
by Helbig, Ingo
Seminars in neurology, ISSN 0271-8235, 06/2015, Volume 35, Issue 3, pp. 288 - 292
copy number variation | exome sequencing | genetic generalized epilepsy | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Epilepsy, Generalized - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Phenotype | Glucose Transporter Type 1 - genetics | Epilepsy, Generalized - epidemiology | Humans | Receptors, GABA-A - genetics | Sodium Channels - genetics | Epilepsy, Generalized - etiology | Mutation - genetics | Index Medicus
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3. Full Text New technologies in molecular genetics. the impact on epilepsy research
by Helbig, Ingo
Progress in brain research, ISSN 0079-6123, 2014, Volume 213, Issue C, pp. 253 - 278
Exome | Copy number variation | Genome sequencing | Epilepsy | Genomics | 15q13.3 microdeletion | SCN1A | Seizures | Genetic Predisposition to Disease | Molecular Biology - trends | Animals | Comparative Genomic Hybridization | Humans | Epilepsy - genetics | Molecular Biology - methods | Index Medicus
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4. Full Text Advancing the phenome alongside the genome in epilepsy studies
by Helbig, Ingo and Lindhout, Dick
Neurology, ISSN 0028-3878, 07/2017, Volume 89, Issue 1, pp. 14 - 15
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Phenotype | Humans | NAV1.1 Voltage-Gated Sodium Channel - genetics | Epilepsy - genetics | Genome, Human | Mutation - genetics | Sequence Analysis, DNA | Index Medicus | Abridged Index Medicus
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5. Full Text Personalized medicine in genetic epilepsies – possibilities, challenges, and new frontiers
by Helbig, Ingo and Ellis, Colin A
Neuropharmacology, ISSN 0028-3908, 08/2020, Volume 172, pp. 107970 - 107970
Neurogenetics | Precision medicine | Electronic medical records | Human phenotype ontology | Epilepsy | Pharmacology & Pharmacy | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Index Medicus
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6. Full Text Teaching NeuroImages: Atrophy in epileptic encephalopathy
by Helbig, Ingo and Adang, Laura
Neurology, ISSN 0028-3878, 01/2018, Volume 90, Issue 5, pp. e442 - e443
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Atrophy - diagnostic imaging | Magnetic Resonance Imaging | Spasms, Infantile - physiopathology | Thalamus - diagnostic imaging | Humans | Female | Atrophy - etiology | Spasms, Infantile - diagnostic imaging | Child | Disease Progression | Index Medicus | Abridged Index Medicus
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7. Full Text Reply to “Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria”
by Goldberg, Ethan M and Helbig, Ingo
Annals of neurology, ISSN 0364-5134, 07/2018, Volume 84, Issue 1, pp. 161 - 161
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Polymicrogyria | Mutation | Spasms, Infantile | Humans | NAV1.3 Voltage-Gated Sodium Channel | Sodium Channels
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8. Full Text Navigating the channels and beyond: unravelling the genetics of the epilepsies
by Helbig, Ingo, MD and Scheffer, Ingrid E, MBBS and Mulley, John C, PhD and Berkovic, Samuel F, MD
Lancet neurology, ISSN 1474-4422, 2008, Volume 7, Issue 3, pp. 231 - 245
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Ion Channels - genetics | Epilepsy - genetics | Family Health | Female | Male | Epilepsy - physiopathology | Epilepsy - epidemiology | Genetics | Epilepsy | Genetic aspects | Index Medicus
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9. Full Text Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
by Mignot, Cyril and von Stülpnagel, Celina and Nava, Caroline and Ville, Dorothée and Sanlaville, Damien and Lesca, Gaetan and Rastetter, Agnès and Gachet, Benoit and Marie, Yannick and Korenke, G Christoph and Borggraefe, Ingo and Hoffmann-Zacharska, Dorota and Szczepanik, Elżbieta and Rudzka-Dybała, Mariola and Yiş, Uluç and Çağlayan, Hande and Isapof, Arnaud and Marey, Isabelle and Panagiotakaki, Eleni and Korff, Christian and Rossier, Eva and Riess, Angelika and Beck-Woedl, Stefanie and Rauch, Anita and Zweier, Christiane and Hoyer, Juliane and Reis, André and Mironov, Mikhail and Bobylova, Maria and Mukhin, Konstantin and Hernandez-Hernandez, Laura and Maher, Bridget and Sisodiya, Sanjay and Kuhn, Marius and Glaeser, Dieter and Wechuysen, Sarah and Myers, Candace T and Mefford, Heather C and Hörtnagel, Konstanze and Biskup, Saskia and Lemke, Johannes R and Héron, Delphine and Kluger, Gerhard and Depienne, Christel and EuroEPINOMICS-RES MAE Working Grp and EuroEPINOMICS-RES MAE working group
Journal of medical genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 511 - 522
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Care and treatment | Epilepsy | Genetics | Nervous system | Degeneration | Research | Mental retardation | Patients | Health aspects | Life Sciences | Neurons and Cognition
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10. Full Text Epileptic encephalopathy, movement disorder, and the yin and yang of GNAO1 function
by Pearson, Toni S and Helbig, Ingo
Neurology, ISSN 0028-3878, 08/2017, Volume 89, Issue 8, pp. 754 - 755
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Index Medicus | Abridged Index Medicus
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11. Full Text Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
by Helbig, Katherine L and Farwell Hagman, Kelly D and Shinde, Deepali N and Mroske, Cameron and Powis, Zöe and Li, Shuwei and Tang, Sha and Helbig, Ingo
Genetics in medicine, ISSN 1098-3600, 09/2016, Volume 18, Issue 9, pp. 898 - 905
epilepsy | seizure | whole-exome sequencing | diagnostic yield | epileptic encephalopathy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Microtubule-Associated Proteins - genetics | Humans | Child, Preschool | Infant | Male | Mitochondrial Proteins - genetics | Epilepsy - physiopathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Whole Exome Sequencing - methods | Epilepsy - diagnosis | GTP Phosphohydrolases - genetics | Adolescent | Adult | Epilepsy - genetics | Female | Child | Pathology, Molecular | Infant, Newborn | Index Medicus
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12. Full Text Commentary: PathogenicEFHC1mutations are tolerated in healthy individuals dependent on reported ancestry
by Pal, Deb and Helbig, Ingo
Epilepsia (Copenhagen), ISSN 0013-9580, 02/2015, Volume 56, Issue 2, pp. 195 - 196
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13. Full Text Commentary: Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry
by Pal, Deb and Helbig, Ingo
Epilepsia (Copenhagen), ISSN 0013-9580, 02/2015, Volume 56, Issue 2, pp. 195 - 196
Epilepsy, Generalized - genetics | Genetic Predisposition to Disease | Mutation - genetics | Humans | Calcium-Binding Proteins - genetics | Myoclonic Epilepsy, Juvenile - genetics | Index Medicus
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