Zobrazeno 1 - 10
of 272
pro vyhledávání: '"Ingo Helbig"'
Autor:
Donna Schaare, Kendra Allison, Kara Skorge, Pangkong Fox, Laina Lusk, Sara M. Sarasua, Ingo Helbig, Luigi Boccuto
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionCACNA1A-related Hemiplegic Migraine (HM) is a rare neurological disorder distinguished by paroxysmal episodes of hemiparesis/hemiplegia with and without headache. Clinical features have been widely characterized, yet the impacts of the pa
Externí odkaz:
https://doaj.org/article/82917b19e876457ca4a512a089e9799f
Autor:
Chad R. Camp, Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G. Banke, Nima Shariatzadeh, Sarah M. Ruggiero, Peter Galer, Kristen L. Park, Adam Caccavano, Sarah Kimmel, Xiaoqing Yuan, Hongjie Yuan, Ingo Helbig, Tim A. Benke, Johannes R. Lemke, Kenneth A. Pelkey, Chris J. McBain, Stephen F. Traynelis
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-16 (2023)
Abstract N-methyl-D-aspartate receptors (NMDARs) are ligand-gated ionotropic glutamate receptors that mediate a calcium-permeable component to fast excitatory neurotransmission. NMDARs are heterotetrameric assemblies of two obligate GluN1 subunits (G
Externí odkaz:
https://doaj.org/article/cf7691bd122c40aa8eaf85252a89fb91
Autor:
Ludovica Montanucci, David Lewis-Smith, Ryan L. Collins, Lisa-Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H. Thomas, Michael Talkowski, Epi25 Collaborative, Ingo Helbig, Costin Leu, Dennis Lal
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Abstract Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizur
Externí odkaz:
https://doaj.org/article/5f673f8d63e1481fb289b59e8453a1ee
Autor:
Katie R. Sullivan, Sarah M. Ruggiero, Julie Xian, Kim M. Thalwitzer, Rahma Ali, Sydni Stewart, Mahgenn Cosico, Jackie Steinberg, James Goss, Anna C. Pfalzer, Kyle J. Horning, Nicole Weitzel, Sydney Corey, Laura Conway, Charlene Son Rigby, Terry Jo Bichell, Ingo Helbig
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 320-333 (2023)
Abstract Objective STXBP1‐related disorders are rare genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models are formal frameworks to assess the lived expe
Externí odkaz:
https://doaj.org/article/8198dab77bef450281e40e20c2430f6a
Autor:
Anna Prentice, Stacey Cohen, Sarah McKeown, Jan Magielski, Arjun Pillai, Michael Kaufman, Laura Conway, Ingo Helbig
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101048- (2024)
Externí odkaz:
https://doaj.org/article/4103d775829b42aaa4c107816cdf8b2a
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101241- (2024)
Externí odkaz:
https://doaj.org/article/1ce548d43a914ebd8dc29de2df9be5d5
Autor:
Simone Seiffert, Manuela Pendziwiat, Ulrike B. S. Hedrich, Ingo Helbig, Yvonne Weber, Niklas Schwarz
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Recently, de novo variants in KCNC2, coding for the potassium channel subunit KV3.2, have been described as causative for various forms of epilepsy including genetic generalized epilepsy (GGE) and developmental and epileptic encephalopathy (DEE). Her
Externí odkaz:
https://doaj.org/article/f35535cc4a4a40148a114289331ac4de
Autor:
James M. Havrilla, Anbumalar Singaravelu, Dennis M. Driscoll, Leonard Minkovsky, Ingo Helbig, Livija Medne, Kai Wang, Ian Krantz, Bimal R. Desai
Publikováno v:
BMC Medical Informatics and Decision Making, Vol 22, Iss S2, Pp 1-12 (2022)
Abstract Background Clinical phenotype information greatly facilitates genetic diagnostic interpretations pipelines in disease. While post-hoc extraction using natural language processing on unstructured clinical notes continues to improve, there is
Externí odkaz:
https://doaj.org/article/b0546970c04e479ab07099cc93034dd6
Autor:
Danielle deCampo, Julie Xian, Alexis Karlin, Katie R. Sullivan, Sarah M. Ruggiero, Peter Galer, Mark Ramos, Nicholas S. Abend, Alex Gonzalez, Ingo Helbig
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionFebrile infection-related epilepsy syndrome (FIRES) is a severe childhood epilepsy with refractory status epilepticus after a typically mild febrile infection. The etiology of FIRES is largely unknown, and outcomes in most individuals wit
Externí odkaz:
https://doaj.org/article/8a5bd6c9eb7a4ad4a8578fc594665952
Autor:
Jillian L McKee, MD, Michael C Kaufman, MS, Alexander K Gonzalez, MS, Mark P Fitzgerald, MD, Shavonne L Massey, MD, France Fung, MD, Sudha K Kessler, MD, Stephanie Witzman, BA, Nicholas S Abend, ProfMD, Ingo Helbig, MD
Publikováno v:
The Lancet: Digital Health, Vol 5, Iss 4, Pp e217-e226 (2023)
Summary: Background: Accurate prediction of seizures can help to direct resource-intense continuous electroencephalogram (CEEG) monitoring to neonates at high risk of seizures. We aimed to use data from standardised EEG reports to generate seizure pr
Externí odkaz:
https://doaj.org/article/49ca7b591c234036b86ad5863f7a6540