Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic Infantile Epileptic Encephalopathy [PDF]
, 2015 published_or_final_versio
Fung, CW, Ho, CCA, Kwong, AKY, Wong, VCN
core +1 more source
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome [PDF]
, 2017 Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills etal. show that PNPO mutations can also cause neonatal onset seizures that respond to pyridoxine but worsen
Bala, Pronab +25 more
core
PRICKLE1-related early onset epileptic encephalopathy [PDF]
, 2018 The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated ...
DI NOIA, S +5 more
core +1 more source
Food Science &Nutrition, Volume 13, Issue 12, December 2025.This review highlights the growing evidence linking diet and key nutrients with sleep quality and circadian regulation. Nutrients such as tryptophan, magnesium, and omega‐3 fatty acids, along with dietary patterns like the Mediterranean and plant‐based diets, demonstrate positive associations with sleep duration and efficiency.
Rony Abou‐Khalil
wiley +1 more source
Trial Readiness: Understanding the Natural History of Rare Diseases
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen +6 more
wiley +1 more source
Short-Term Neurodevelopmental Outcome in Term Neonates Treated with Phenobarbital versus Levetiracetam: A Single-Center Experience [PDF]
, 2019 BACKGROUND: Phenobarbital (PB) has been traditionally used as the first-line treatment for neonatal seizures. More recently, levetiracetam (LEV) has been increasingly used as a promising newer antiepileptic medication for treatment of seizures in ...
Barbagallo, M. +7 more
core +3 more sources
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Tyrosine hydroxylase (TH) catalyses the rate‐limiting step in dopamine biosynthesis. Autosomal recessive tyrosine hydroxylase deficiency (THD) leads to clinical phenotypes reflecting the deficiency of dopamine, norepinephrine, or epinephrine in the central nervous system (CNS), presenting along a continuous spectrum from mild to severe forms ...
Mariya Sigatullina Bondarenko +41 more
wiley +1 more source
Fetal midline anomalies: Diagnosis and counselling Part 1: Corpus callosum anomalies. [PDF]
, 2018 Midline anomalies encompasses a heterogeneous group of conditions caused by an abnormal process of ventral induction after the end of primary neurulation.
D'Antonio, F +3 more
core +1 more source
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology [PDF]
PLoS One, 2017 N. A. Zabinyakov +8 more
openalex +3 more sources
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations [PDF]
, 2004 CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown.
Anis, Miliea +7 more
core +6 more sources