Results 181 to 190 of about 314,179 (314)

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

Epileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source

Pulse Oximetry Screening for Critical Congenital Heart Disease: A Four-Year Experience in Qatar. [PDF]

Cureus
Abu Jarir R, Nimeri N, Alsaid A, Kamal R, Ibrahim L, Haridy F.   +5 more
europepmc   +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

Patterns of respectful care and mistreatment during childbirth in relation to perinatal mental health: a secondary analysis of listening to mothers in California. [PDF]

Arch Womens Ment Health
Iobst S, Erickson E.
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

Closing/Closed Gastroschisis (CGS): Antenatal Predictors and Surgical Strategies in Cases of Unique Anatomy from a Case Series. [PDF]

Children (Basel)
Morozov D, Vanyan L, Morozova M, Erokhina N, Velichko E, Morozova O, Yagodkina M, Shumikhin V, Mokrushina O.   +8 more
europepmc   +1 more source

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

Clinical process quality of antenatal care in low and middle-income countries: Cross-sectional evidence from 13 countries. [PDF]

PLOS Glob Public Health
Kovacs R.
europepmc   +1 more source

Biofluid‐specific variations in circulating 5′ transfer RNA fragments during ictal and interictal states in experimental temporal lobe epilepsy

Epilepsia, EarlyView.
Abstract Objective Circulating small noncoding RNAs represent potential biomarkers of temporal lobe epilepsy (TLE). Recently, two transfer RNA fragments (tRFs), 5′tRF Glu‐CTC and Gly‐GCC, were found to be elevated in plasma samples collected in advance of a seizure in TLE patients, suggesting they may serve as potential wet biomarkers of seizure risk ...
Marie Soukupova, Elena Perez Morrissey, Annunziata Guarino, Pietro Marino, Cristiana Pareo, Nicolò Birtolo, Saad Zaheer, Rachel Stewart, Ina Woods, Felix Rosenow, Hajo Hamer, Péter Körtvélyessy, Shona Pfeiffer, David C. Henshall, Jochen H. M. Prehn, Michele Simonato   +15 more
wiley   +1 more source

A community based investigation of urban male partners' understanding and participation in maternity care: A cross-sectional study in Bangladesh. [PDF]

PLoS One
Rahman QM, Sikder MT.
europepmc   +1 more source