Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Afsheen Q, Khan"'
Autor:
Olivier Fortin, Christian Vincelette, Afsheen Q. Khan, Saoussen Berrahmoune, Christelle Dassi, Mitra Karimi, Ingrid E. Scheffer, Jun Lu, Kellie Davis, Kenneth A. Myers
Publikováno v:
Epilepsia Open, Vol 6, Iss 2, Pp 425-430 (2021)
Abstract We aimed to describe the phenotypic spectrum of seizures in Sotos syndrome, a genetic condition involving overgrowth, macrocephaly, dysmorphic features, and learning disability, in which 60%‐90% have NSD1 pathogenic variants. Patients were
Externí odkaz:
https://doaj.org/article/3e0f33617ffc4f4e9b85d226ad046003
Publikováno v:
Epileptic Disorders. 24:928-933
Koolen-de Vries syndrome (KdVS) is a genetic condition caused by 17q21.31 microdeletions or pathogenic variants in KANSL1. Affected patients most commonly exhibit some or all of the following: neonatal hypotonia, developmental impairment, facial dysm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a1c3122c6f248bc0d061151fb912467
https://doi.org/10.1684/epd.2022.1452
https://doi.org/10.1684/epd.2022.1452
Autor:
Ingrid E. Scheffer, Mitra Karimi, Kellie Davis, Afsheen Q. Khan, Christelle Dassi, Jun Lu, Christian Vincelette, Saoussen Berrahmoune, Kenneth A. Myers, Olivier Fortin
Publikováno v:
Epilepsia Open, Vol 6, Iss 2, Pp 425-430 (2021)
Epilepsia Open
Epilepsia Open
We aimed to describe the phenotypic spectrum of seizures in Sotos syndrome, a genetic condition involving overgrowth, macrocephaly, dysmorphic features, and learning disability, in which 60%‐90% have NSD1 pathogenic variants. Patients were recruite
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a75f8667989ac9795c9a806990a55b1
https://doaj.org/article/3e0f33617ffc4f4e9b85d226ad046003
https://doaj.org/article/3e0f33617ffc4f4e9b85d226ad046003
Autor:
Kenneth A Myers, Rebecca Barmherzig, Nichelle R Raj, Saoussen Berrahmoune, Pablo Ingelmo, Christine Saint-Martin, Afsheen Q Khan, Megan Kouri, Cynthia Morris, Andrew D Hershey, Joanne Kacperski, Marielle A Kabbouche, Nada Mohamed, Rashmi R Rao, Ana Marissa Lagman-Bartolome, Amy A Gelfand, Christina L Szperka, Serena L Orr
Publikováno v:
Cephalalgia : an international journal of headache. 42(8)
Background Headaches with marked, specific response to indomethacin occur in children, but the phenotypic spectrum of this phenomenon has not been well-studied. Methods We reviewed pediatric patients with headache showing ≥80% improvement with indo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1520381cced17f0b949f4287e5f0ae9d
https://pubmed.ncbi.nlm.nih.gov/35302385
https://pubmed.ncbi.nlm.nih.gov/35302385
Autor:
Zanab Al-Roubaie, Kenneth A. Myers, Agnihotram V. Ramanakumar, Afsheen Q. Khan, Elena Guadagno
Publikováno v:
Neurol Clin Pract
ObjectiveTo systematically review and evaluate the available evidence supporting or refuting clinical use of therapeutic drug monitoring (TDM) of antiepileptic drugs (AEDs) in patients with epilepsy.MethodsWe searched MEDLINE, Embase, BIOSIS, Cochran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f10fb8b33acc6073ed690b0022a5b52e
https://doi.org/10.1212/cpj.0000000000000722
https://doi.org/10.1212/cpj.0000000000000722
Autor:
J Lu, Ingrid E. Scheffer, K Davis, Saoussen Berrahmoune, Afsheen Q. Khan, Christian Vincelette, Olivier Fortin, Kenneth A. Myers
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46:S27
Background: Sotos syndrome is a genetic condition caused by NSD1 alterations, characterized by overgrowth, macrocephaly, dysmorphic features, and learning disability. Approximately half of children with Sotos syndrome develop seizures. We investigate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::032810e00c0c81ee9f7813f3a2f2340c
https://doi.org/10.1017/cjn.2019.150
https://doi.org/10.1017/cjn.2019.150