Results 171 to 180 of about 21,565 (298)

The ‘State’ of Surrogacy Laws: Determinations of Legal Parenthood for Gay Fathers [PDF]

, 2011
Dana, Anne R.
core   +1 more source

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

Assessment of biotinidase activity changes over time in biotinidase deficient patients. [PDF]

Front Pediatr
Gülbahçe A, Muderrisoglu A, Güneş H, Erdoğan M, Dündar M, Kardaş F.   +5 more
europepmc   +1 more source

Pregnancy rates following single euploid embryo transfer are unchanged in gestational carrier compared to non-gestational carrier in vitro fertilization cycles [PDF]

Fertility and Sterility, 2019
Carrie Riestenberg, Seyedeh Nahaleh Salvatian, Haley Baltimore, Molly M. Quinn, Alin Lina Akopians, Hal C. Danzer, Mark W. Surrey, Jason A. Barritt   +7 more
openaire   +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

Women with epilepsy: Evidence‐based counseling across the lifespan

Epilepsia, EarlyView.
Abstract Women with epilepsy (WWE) encounter distinct and evolving challenges across the lifespan that require clinical management extending beyond seizure control alone. Although awareness of sex‐specific aspects of epilepsy has increased, important gaps remain in their integration into routine care.
Barbara Tettenborn, Georgia Ramantani, Dominique Flügel, Verena Gaus, Susanne Schubert‐Bast, Elisabeth Sellitto, Jennifer Bausch, Bettina Schmitz   +7 more
wiley   +1 more source

Obstetric history of women with m.3243A>G: an observational cohort study. [PDF]

J Med Genet
Kuikka P, Nikkinen H, Majamaa K, Martikainen MH.   +3 more
europepmc   +1 more source

Recommendations for structural magnetic resonance imaging in infants with first afebrile seizure or new onset epilepsy: Evidence‐based recommendations from the ILAE Neuroimaging Task Force

Epilepsia, EarlyView.
Abstract Infants aged 1–24 months with new onset epilepsy frequently present with structural brain abnormalities, yet no updated evidence‐based magnetic resonance imaging (MRI) guidelines exist for this population. The International League Against Epilepsy (ILAE) Neuroimaging Task Force developed evidence‐based recommendations for structural brain MRI ...
Gavin P. Winston, Simone Salemme, Gaetano Cantalupo, Fernando Cendes, Felice D′Arco, Paolo Federico, William D. Gaillard, Eliane Kobayashi, Edward J. Novotny, Godwin Ogbole, Abdul Kareem Pullattayil, Domenico Tortora, Matthew T. Whitehead, Taoyun Yi, Francesco Brigo, Anna Elisabetta Vaudano   +15 more
wiley   +1 more source

Low prevalence of GCK gene mutations in Chinese patients with gestational diabetes mellitus. [PDF]

Clinics (Sao Paulo)
Wang Z, Huo L, Lan L, Chen Y, Zuo Q, Deng W.   +5 more
europepmc   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source