Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Olivia Grocott"'
Publikováno v:
American Journal of Medical Genetics Part A. 182:504-507
Fumarate hydratase deficiency (FHD) is a rare metabolic disease caused by two defective copies of the FH gene, which encodes the Krebs cycle enzyme fumarase. FHD is associated with brain and developmental abnormalities, seizures, and high childhood m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c0b4e8d2653feed4c26ffb28153ff23
https://doi.org/10.1002/ajmg.a.61415
https://doi.org/10.1002/ajmg.a.61415
Publikováno v:
Epilepsy & Behavior. 82:170-174
Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Myoclonic seizures
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96b01f3db1fd8cbe94d95d1a425e2881
https://doi.org/10.1016/j.yebeh.2018.02.006
https://doi.org/10.1016/j.yebeh.2018.02.006
Autor:
Garrett C. Zella, Portia A. Kunz, Kriston Ganguli, Anna M. Larson, Olivia Grocott, Laura W. Glassman, Ronald L. Thibert
Publikováno v:
American Journal of Medical Genetics Part A. 173:2703-2709
Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, expressive speech impairment, movement disorder, epilepsy, and a happy demeanor. Children with AS are frequently reported to be poor feeders during infancy an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a543496eb38fad7542df78f9aa7e0646
https://doi.org/10.1002/ajmg.a.38401
https://doi.org/10.1002/ajmg.a.38401
Autor:
Heidi H. Pfeifer, Elizabeth A. Thiele, Ronald L. Thibert, Katherine S. Herrington, Olivia Grocott
Publikováno v:
Epilepsy & Behavior. 68:45-50
The low glycemic index treatment, a dietary therapy that focuses on glycemic index and reduced carbohydrate intake, has been successful in reducing seizure frequency in the general epilepsy population. Epilepsy is a common feature of Angelman syndrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62dd0574af45f516947bde26b2dad09e
https://doi.org/10.1016/j.yebeh.2016.12.018
https://doi.org/10.1016/j.yebeh.2016.12.018
Publikováno v:
The FASEB Journal. 34:1-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a17dd79ad1e5308d5096076c962717fb
https://doi.org/10.1096/fasebj.2020.34.s1.00540
https://doi.org/10.1096/fasebj.2020.34.s1.00540
Publikováno v:
Epilepsybehavior : EB. 82
Nonconvulsive status epilepticus (NCSE) is present in multiple pediatric neurogenetic syndromes with epileptic encephalopathies. While intravenous (IV) medications are used inpatient for treatment of critical illness-related NCSE, there is no consens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba3d936d23c92e69da88176a505ed343
https://pubmed.ncbi.nlm.nih.gov/29597185
https://pubmed.ncbi.nlm.nih.gov/29597185
Publikováno v:
American journal of medical genetics. Part A. 176(6)
Angelman syndrome is a neurogenetic disorder with varying clinical presentations and symptoms as the individual ages. The goal of this study was to characterize changes over time in the natural history of this syndrome in a large population. We revie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::069ada20f43b8b66e900bb7d4d9494ba
https://pubmed.ncbi.nlm.nih.gov/29696750
https://pubmed.ncbi.nlm.nih.gov/29696750
Publikováno v:
Epilepsybehavior : EB. 60
Epilepsy is a common feature of Angelman syndrome (~80-90%), with the most common seizure types including myoclonic, atonic, atypical absence, focal, and generalized tonic-clonic. Seizure types are similar among the various genetic subtypes, but epil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e6d1404595896b68baf76db9ab591dc
https://pubmed.ncbi.nlm.nih.gov/27206232
https://pubmed.ncbi.nlm.nih.gov/27206232
Publikováno v:
The FASEB Journal. 29
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d2d737a6a5f78ffc0d5e9b60c546002
https://doi.org/10.1096/fasebj.29.1_supplement.702.10
https://doi.org/10.1096/fasebj.29.1_supplement.702.10