Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Beth Rosen Sheidley"'
Autor:
Christelle Moufawad El Achkar, Beth Rosen Sheidley, Declan O'Rourke, Masanori Takeoka, Annapurna Poduri
Publikováno v:
Epilepsy and Behavior Case Reports, Vol 11, Iss , Pp 125-128 (2019)
PRRT2 pathogenic variants have been described in benign familial infantile epilepsy, episodic ataxia, paroxysmal kinesigenic dyskinesia, and hemiplegic migraines.We describe a patient with compound heterozygous variants, infantile epilepsy with statu
Externí odkaz:
https://doaj.org/article/b6189b2e38964928a13450d70d7d68fa
Autor:
Lacey Smith, Jennifer Malinowski, Sophia Ceulemans, Katlin Peck, Nephi Walton, Beth Rosen Sheidley, Natalie Lippa
Publikováno v:
Journal of genetic counselingREFERENCES.
Epilepsy, defined by the occurrence of two or more unprovoked seizures or one unprovoked seizure with a propensity for others, affects 0.64% of the population and can lead to significant morbidity and mortality. A majority of unexplained epilepsy (se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0eeab47dff167477d806db78fda351
https://pubmed.ncbi.nlm.nih.gov/36281494
https://pubmed.ncbi.nlm.nih.gov/36281494
Autor:
Andrew Quitadamo, Michael Field, Meredith Park, Pankaj B. Agrawal, Timothy W. Yu, Shira Rockowitz, Annapurna Poduri, Lily Li-Wen Wang, Scott B. Snapper, Lacey Smith, Beth Rosen Sheidley, Devon Knight, Catherine A. Brownstein, Alan H. Beggs, Mary Carmack, Nicholas LeCompte, Piotr Sliz, Emma Sexton, David A. Williams, Ingrid A. Holm, Susan Kornetsky
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-12 (2020)
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-12 (2020)
While genomic data is frequently collected under distinct research protocols and disparate clinical and research regimes, there is a benefit in streamlining sequencing strategies to create harmonized databases, particularly in the area of pediatric r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff67778d94c00a44ed0b911da636d8c9
http://europepmc.org/articles/PMC7338382
http://europepmc.org/articles/PMC7338382
Autor:
Andreas Brunklaus, David Baez-Nieto, Matthieu Milh, Bertrand Isidor, Hilde Van Esch, Joseph D. Symonds, Ingo Helbig, Stephanie Schorge, Arthur J. Campbell, Annapurna Poduri, Jen Q. Pan, Ismael I. Ghanty, Dana Craiu, Haoran Wang, Jordane Dimidschstein, Felix Steckler, Dennis Lal, Tiffany Busa, Heather E. Olson, Andrew J. Allen, Katrine M. Johannesen, Sarah Weckhuysen, Holger Lerche, Christel Depienne, Peter DeJonge, Beth Rosen Sheidley, Henrike O. Heyne, Christina Fenger, Rikke S. Møller, Sameer M. Zuberi, Juanjiangmeng Du, Stephen Sanders
Publikováno v:
Epilepsia
Epilepsia, 2020, 61, pp.387-399. ⟨10.1111/epi.16438⟩
Brunklaus, A, Du, J, Steckler, F, Ghanty, I I, Johannesen, K M, Fenger, C D, Schorge, S, Baez-Nieto, D, Wang, H R, Allen, A, Pan, J Q, Lerche, H, Heyne, H, Symonds, J D, Zuberi, S M, Sanders, S, Sheidley, B R, Craiu, D, Olson, H E, Weckhuysen, S, DeJonge, P, Helbig, I, Van Esch, H, Busa, T, Milh, M, Isidor, B, Depienne, C, Poduri, A, Campbell, A J, Dimidschstein, J, Møller, R S & Lal, D 2020, ' Biological concepts in human sodium channel epilepsies and their relevance in clinical practice ', Epilepsia, vol. 61, no. 3, pp. 387-399 . https://doi.org/10.1111/epi.16438
Epilepsia, Wiley, 2020, 61, pp.387-399. ⟨10.1111/epi.16438⟩
Epilepsia, 2020, 61, pp.387-399. ⟨10.1111/epi.16438⟩
Brunklaus, A, Du, J, Steckler, F, Ghanty, I I, Johannesen, K M, Fenger, C D, Schorge, S, Baez-Nieto, D, Wang, H R, Allen, A, Pan, J Q, Lerche, H, Heyne, H, Symonds, J D, Zuberi, S M, Sanders, S, Sheidley, B R, Craiu, D, Olson, H E, Weckhuysen, S, DeJonge, P, Helbig, I, Van Esch, H, Busa, T, Milh, M, Isidor, B, Depienne, C, Poduri, A, Campbell, A J, Dimidschstein, J, Møller, R S & Lal, D 2020, ' Biological concepts in human sodium channel epilepsies and their relevance in clinical practice ', Epilepsia, vol. 61, no. 3, pp. 387-399 . https://doi.org/10.1111/epi.16438
Epilepsia, Wiley, 2020, 61, pp.387-399. ⟨10.1111/epi.16438⟩
International audience; ObjectiveVoltage‐gated sodium channels (SCNs) share similar amino acid sequence, structure, and function. Genetic variants in the four human brain‐expressed SCN genes SCN1A/2A/3A/8A have been associated with heterogeneous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a4f3cb1ce23c8ff39caf191df60a1a7
https://hdl.handle.net/10067/1667950151162165141
https://hdl.handle.net/10067/1667950151162165141
Publikováno v:
Current Genetic Medicine Reports. 6:73-82
Epilepsy is among the most common neurological diseases, affecting 65 million people worldwide. Recent revisions to the classification of epilepsies by the International League Against Epilepsy (ILAE) reflect a growing awareness of genetic contributi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e30cb6ac99d06009c15f3bf8f24d774
https://doi.org/10.1007/s40142-018-0139-8
https://doi.org/10.1007/s40142-018-0139-8
Autor:
Annapurna Poduri, Ingrid A. Holm, Jonathan R. Lucas, Christopher H. Thompson, Othon J. Mena, Hannah C. Kinney, Catherine A. Brownstein, Elisabeth A. Haas, Robin L. Haynes, Matthew N. Bainbridge, Richard D. Goldstein, Alfred L. George, Emma K. Giles, Bethann Schaber, Beth Rosen Sheidley
Publikováno v:
Epilepsia. 59:e56-e62
We identified SCN1A variants in two infants who died of Sudden Infant Death Syndrome (SIDS) from an exome sequencing study of 10 cases of SIDS with hippocampal abnormalities but no history of seizures. One harbored SCN1A G682V, and the other had two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5a759f12117331cf0f79738fb16facf
https://doi.org/10.1111/epi.14055
https://doi.org/10.1111/epi.14055
Autor:
Sonal Mahida, Annapurna Poduri, Beth Rosen Sheidley, Meredith Park, Lacey Smith, Catherine Shain, McKenna Kelly, Louisa G. Keith, Alan Taylor, Shira Rockowitz, Heather E. Olson, Anne Rochtus, Christelle Moufawad El Achkar
Publikováno v:
Epilepsia
OBJECTIVE We evaluated the yield of systematic analysis and/or reanalysis of whole exome sequencing (WES) data from a cohort of well-phenotyped pediatric patients with epilepsy and suspected but previously undetermined genetic etiology. METHODS We id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6313322b1bf26f874659565cf95f174
https://pubmed.ncbi.nlm.nih.gov/31957018
https://pubmed.ncbi.nlm.nih.gov/31957018
Autor:
Tobias Loddenkemper, Annapurna Poduri, Marina Gaínza-Lein, Beth Rosen Sheidley, Iván Sánchez Fernández
ObjectiveTo compare the cost-effectiveness of genetic testing strategies in patients with epilepsy of unknown etiology.MethodsThis meta-analysis and cost-effectiveness study compared strategies involving 3 genetic tests: chromosomal microarray (CMA),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a362c43da798a6c4575a3074fe868225
https://europepmc.org/articles/PMC6369901/
https://europepmc.org/articles/PMC6369901/
Autor:
Anne M, Rochtus, Sara, Trowbridge, Richard D, Goldstein, Beth Rosen, Sheidley, Sanjay P, Prabhu, Robin, Haynes, Hannah C, Kinney, Annapurna H, Poduri
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Early infantile epileptic encephalopathy (EIEE) is a severe disorder associated with epilepsy, developmental delay and intellectual disability, and in some cases premature mortality. We report the case of a female infant with EIEE and strikingly supp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aa0bc5eee7d5429c7959590b30174cd5
https://pubmed.ncbi.nlm.nih.gov/30709877
https://pubmed.ncbi.nlm.nih.gov/30709877
Autor:
Lacey Smith, Annapurna Poduri, Nilika S. Singhal, Gessica Truglio, Joseph Sullivan, Beth Rosen Sheidley, Christelle Moufawad El Achkar
Objective To characterize the features associated with PCDH19-related epilepsy, also known as "female-limited epilepsy." Methods We analyzed data from participants enrolled in the PCDH19 Registry, focusing on the seizure-related, developmental, neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb323298289cee78b8b7958d012e3ae2
https://europepmc.org/articles/PMC6264912/
https://europepmc.org/articles/PMC6264912/