CHD2 variants are a risk factor for photosensitivity in epilepsy

Autor: Ec, Galizia, Ct, Myers, Costin Leu, Cg, Kovel, Afrikanova T, Ml, Cordero-Maldonado, Tg, Martins, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ak, Ruppert, Rs, Møller, Thiele H, Krause R, Schubert J, Ae, Lehesjoki, Nürnberg P, Lerche H, EuroEPINOMICS CoGIE Consortium, Palotie A, Coppola A, Striano S, Ld, Gaudio, Boustred C, Al, Schneider, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggotti P, Piccioli M, Parisi P, Cantonetti L, Lg, Sadleir, Sa, Mullen, Sf, Berkovic, Stephani U, Helbig I, Ad, Crawford, Cv, Esguerra, Dg, Kasteleijn-Nolst Trenité, Bp, Koeleman, Hc, Mefford, Ie, Scheffer, Sm, Sisodiya

Publikováno v: Europe PubMed Central
Brain

Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bfebb7b7a67a5b1767321d372419498b
http://europepmc.org/abstract/med/25783594

Reimagining Supportive Approaches at the Intersection of Mandatory Reporting Policies for the Mother-Infant Dyad Affected by Substance Use.

Autor: McGlothen-Bell K; School of Nursing, UT Health San Antonio, San Antonio, Texas (Drs McGlothen-Bell, McGrath, and Crawford); School of Nursing, Old Dominion University, Norfolk, Virginia (Dr Cartagena); College of Nursing, Marquette University, Milwaukee, Wisconsin (Dr Malin); Egan School of Nursing and Health Studies, Fairfield University, Fairfield, Connecticut (Dr Vittner); Neonatal Intensive Care Unit, Connecticut Children's, Hartford, Connecticut (Dr Vittner); College of Nursing, University of South Florida, Tampa, Florida (Dr Koerner); and Center for Health Policy and Health Services Research, Henry Ford Health, Detroit, Michigan (Dr Vance)., Cartagena D, Malin KJ, Vittner D, McGrath JM, Koerner RL, Vance AJ, Crawford AD

Publikováno v: Advances in neonatal care : official journal of the National Association of Neonatal Nurses [Adv Neonatal Care] 2024 Oct 01; Vol. 24 (5), pp. 424-434. Date of Electronic Publication: 2024 Aug 27.

Effectiveness of add-on acetazolamide in children with drug-resistant CHD2-related epilepsy and in a zebrafish CHD2 model.

Autor: Melikishvili G; MediClubGeorgia Medical Center, Tbilisi, Georgia., Striano P; IRCCS Istituto Giannina Gaslini', Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa, Italy., Shojeinia E; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway.; Institute for Orphan Drug Discovery, Bremerhaven, Germany., Gachechiladze T; MediClubGeorgia Medical Center, Tbilisi, Georgia., Kurua E; MediClubGeorgia Medical Center, Tbilisi, Georgia., Tabatadze N; MediClubGeorgia Medical Center, Tbilisi, Georgia., Melikishvili M; MediClubGeorgia Medical Center, Tbilisi, Georgia., Koniashvili O; MediClubGeorgia Medical Center, Tbilisi, Georgia., Khachiashvili G; MediClubGeorgia Medical Center, Tbilisi, Georgia., Epitashvili N; Epilepsy Center, Medical Center, University of Freiburg, Freiburg, Germany., Rimma G; Kazan Federal University, Kazan, Russia., Belyaev O; Department of Neurology, Institute of Continuous Medical Education, Volgograd State Medical University, Volgograd, Russia., Tomenko T; Ural Federal University, Ekaterinburg, Russia., Kharytonov V; Clinical Hospital 'Psychiatry', Kiev, Ukraine., Guliyeva U; MediClub Hospital, Baku, Azerbaijan., Esguerra CV; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway., Crawford AD; Institute for Orphan Drug Discovery, Bremerhaven, Germany., Dulac O; AdPueriVitam, Antony, France.

Publikováno v: Epilepsia open [Epilepsia Open] 2024 Oct; Vol. 9 (5), pp. 1972-1980. Date of Electronic Publication: 2024 Aug 24.

Perinatal Health Outcomes Among Women on Community Supervision: A Scoping Review.

Autor: Crawford AD; School of Nursing, University of Texas Health at San Antonio, San Antonio, Texas, USA., Testa A; School of Public Health, University of Texas Health at Houston, Houston, Texas, USA., Darilek U; Department of Pediatrics, School of Medicine, University of Texas Health at San Antonio, San Antonio, Texas, USA., Howe R; Briscoe Library, School of Health Professions, University of Texas Health at San Antonio, San Antonio, Texas, USA., McGrath JM; School of Nursing, University of Texas Health at San Antonio, San Antonio, Texas, USA., Shlafer R; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.

Publikováno v: Journal of correctional health care : the official journal of the National Commission on Correctional Health Care [J Correct Health Care] 2024 Aug; Vol. 30 (4), pp. 245-256. Date of Electronic Publication: 2024 Jul 10.

Conditions that influence coping mechanisms in Latina mothers affected by incarceration: A secondary analysis using the vulnerability framework.

Autor: Crawford AD; School of Nursing, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA., Ricks TN; School of Nursing, RN-BSN Program, Austin Community College, Round Rock, Texas, USA., Bell KM; School of Nursing, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA., McGrath JM; School of Nursing, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA., Abbyad C; School of Nursing, The University of Texas at Austin, Austin, Texas, USA., Polinard E, Cleveland LM; School of Nursing, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA.

Publikováno v: Research in nursing & health [Res Nurs Health] 2024 Apr; Vol. 47 (2), pp. 151-160. Date of Electronic Publication: 2023 Aug 24.