Results 111 to 120 of about 57,085 (307)

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings

Epilepsia, EarlyView.
Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis, Juliette Copeland, Isabella Velez, Karen L. Oliver, Hannah Shalaby, Aaron Baldwin, Caren Armstrong, Amanda Back, Brianna Berlin, Stacey Cohen, Vishnu Anand Cuddapah, Danielle deCampo, Holly Dubbs, Natalie Ginn, Alicia G. Harrison, Naomi Lewin, Laina Lusk, Eric D. Marsh, Shavonne L. Massey, Pamela Pojomovsky McDonnell, Jillian L. McKee, Xilma Ortiz‐Gonzalez, Anna J. Prentice, Katie Rose Sullivan, Sarah M. Ruggiero, Mark P. Fitzgerald, Ethan M. Goldberg, Ingo Helbig   +27 more
wiley   +1 more source

Long‐term safety of early discontinuation of antiseizure medication after resolution of acute provoked neonatal seizures

Epilepsia, EarlyView.
Abstract Objective To assess long‐term safety of antiseizure medication (ASM) discontinuation after resolution of acute provoked neonatal seizures and prior to hospital discharge. Methods Prospective, observational, comparative effectiveness cohort study of neonates with acute provoked seizures born from July 2015 to March 2018, and followed until ...
Hannah C. Glass, Adam L. Numis, Janet S. Soul, Courtney J. Wusthoff, Monica E. Lemmon, Catherine J. Chu, Shavonne L. Massey, Cameron Thomas, Tayyba Anwar, Madison M. Berl, Jennifer G. Larson, Julie Sturza, Dana Annis, Elizabeth E. Rogers, Linda S. Franck, Charles E. McCulloch, Renée A. Shellhaas   +16 more
wiley   +1 more source

Placental Transfusion for Asphyxiated Infants. [PDF]

, 2019
The current recommendation for umbilical cord management of non-vigorous infants (limp, pale, and not breathing) who need resuscitation at birth is to immediately clamp the umbilical cord.
Bava, Sunita, Katheria, Anup C, Lakshminrusimha, Satyan, Rich, Wade D   +3 more
core  

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 [PDF]

, 2017
Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.
Baker, K, Clayton-Smith, J, Dabir, T, DDD Study, Evers, JMG, Josifova, D, Joss, S, Kerr, B, Kraus, A, Laskowski, RA, McEntagart, M, Morton, J, O'Brien, S, Smith, A, Splitt, M, Suri, M, Thornton, JM, Wright, CF   +17 more
core   +2 more sources

Therapeutic hypothermia for neonatal encephalopathy in low- and middle-income countries: a systematic review and meta-analysis.

PLoS ONE, 2013
UnlabelledAlthough selective or whole body cooling combined with optimal intensive care improves outcomes following neonatal encephalopathy in high-income countries, the safety and efficacy of cooling in low-and middle-income countries is not known ...
Shreela S Pauliah, Seetha Shankaran, Angie Wade, Ernest B Cady, Sudhin Thayyil   +4 more
doaj   +1 more source

Ante/Intrapartum Risks of Neonatal Encephalopathy

Pediatric Neurology Briefs, 1999
The role of antepartum and intrapartum factors in the etiology of neonatal encephalopathy (NE) in 164 term infants was investigated in a Western Australian case-control study, with 400 randomly selected controls.
J Gordon Millichap
doaj   +1 more source

Quantitative electroencephalographic measures during postmalarial epileptogenesis

Epilepsia, EarlyView.
Abstract Objective Severe malaria with neurologic involvement contributes significantly to the global burden of acquired pediatric epilepsy. We studied quantitative electroencephalographic (EEG) measures in postmalarial epileptogenesis. Methods A total of 186 patients, aged 6 months to 11 years, with confirmed central nervous system malaria were ...
Rasesh B. Joshi, Suzanna Mwanza, Hitten P. Zaveri, Joseph Kasolo, Angela Masempela, Thelma Musakanya, Tina Mwale, Violet Nambeye, Rosemary Nyriongo, Ruth A. Tembo, Christopher Cortina, Bo Zhang, Gretchen L. Birbeck, Alexander Rotenberg, Archana A. Patel   +14 more
wiley   +1 more source

Maternal pomegranate juice intake and brain structure and function in infants with intrauterine growth restriction: A randomized controlled pilot study. [PDF]

, 2019
Polyphenol-rich pomegranate juice has been shown to have benefit as a neuroprotectant in animal models of neonatal hypoxic-ischemia. No published studies have investigated maternal polyphenol administration as a potential neuroprotectant in at-risk ...
Alexopoulos, Dimitrios, Cherkerzian, Sara, Inder, Terrie E, Kenley, Jeanette, Matthews, Lillian G, Nelson, D. Michael, Smyser, Christopher D, Tuuli, Methodius G   +7 more
core   +2 more sources