Results 221 to 230 of about 159,850 (300)

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

open access: yesEpilepsia, 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   +19 more
wiley   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini   +13 more
wiley   +1 more source

EEG findings in SERAC1‐related MEGD(H)EL syndrome

open access: yes
Epileptic Disorders, EarlyView.
Apurva Patel, Dalila Lewis, Thomas Koch
wiley   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

open access: yesEpilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza   +4 more
wiley   +1 more source

Effects of perinatal variables on echocardiographic assessments of left ventricular dimensions in infants born large for gestational age: a prospective cohort analysis. [PDF]

open access: yesItal J Pediatr
Amarah A   +11 more
europepmc   +1 more source

Age, embryo donor status, and insemination with chilled semen all predispose to persistent breeding‐induced endometritis in warmblood mares

open access: yesEquine Veterinary Journal, EarlyView.
Abstract Background Persistent breeding‐induced endometritis (PBIE) is a common reason for mares failing to establish pregnancy. Objective To examine the hypothesis that advancing mare age and embryo donor status predispose to PBIE and compromise fertility.
Tom Stout   +3 more
wiley   +1 more source

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