Results 191 to 200 of about 387,299 (307)

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source

Statin use in pregnancy and risk of congenital malformations: a Norwegian nationwide study. [PDF]

Eur Heart J
Christensen JJ, Holven KB, Bogsrud MP, Retterstøl K, Roeters van Lennep JE, Michelsen TM, Veierød MB, Nordeng H.   +7 more
europepmc   +1 more source

Prevalence of epilepsy and the burden of underlying causes: Canadian validation of Danish estimates

Epilepsia, EarlyView.
Abstract Objective Recent work has provided population‐based estimates of the prevalence of cause‐specific epilepsy across the lifespan in Denmark. We sought to externally validate these Danish “secondary epilepsy” findings to ascertain consistency across geographic regions.
Marin Anderson, Jakob Christensen, Channa Buxbaum, Jaimie Steinmetz, Nathalie Jette, Samuel Wiebe, Colin B. Josephson   +6 more
wiley   +1 more source

Parental consanguinity and the prevalence of congenital anomalies in Venezuela: a comparative analysis with the Latin American Collaborative Study of Congenital Malformations-ECLAMC. [PDF]

J Community Genet
Senior BJ, Negri J, Camelo JL.
europepmc   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

A fetal autopsy study on congenital malformations among stillbirths in a tertiary care hospital. [PDF]

Sci Rep
D N, N S, S P V, Patel M C S, R A S, G V M.   +5 more
europepmc   +1 more source

Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention

ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou, Yu Wu, Guoran Li, Yongwen Qin, Man Qi, Zhitao Jin   +5 more
wiley   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Paracetamol exposure during pregnancy, the risk of major congenital malformations, and perinatal and postnatal outcomes: a population-based cohort study. [PDF]

Hum Reprod Open
Idan D, Hasidim AA, Ben Shitrit I, Michael T, Levy A, Pariente G, Lunenfeld E, Daniel S.   +7 more
europepmc   +1 more source

Impact of vigabatrin on risk of relapse of infantile spasms

Epilepsia Open, EarlyView.
Abstract Objective Vigabatrin is an effective treatment for infantile epileptic spasms syndrome (IESS), but relapse remains a clinical challenge. The ideal dose and duration of treatment after response are unknown. We set out to identify treatment‐related predictors of IESS relapse after initial vigabatrin response. Methods We conducted a retrospective
Yaretson I. Carmenate, Hayoung E. Ahn, Haley R. Peters, Hiroki Nariai, Rajsekar R. Rajaraman, Shaun A. Hussain   +5 more
wiley   +1 more source