Rett syndrome
Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects predominantly females. In most cases, RTT is associated wi…
Tag: Neurodevelopmental disorders
The effect of using dexmedetomidine versus morphine as sedation on long-term neurodevelopmental outcomes of encephalopathic neonates undergoing therapeutic hypothermia
To compare neurodevelopmental outcomes using Bayley Scales of Infant Development (BSID), between encephalopathic neonates undergoing therapeutic hy…
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
TXNDC15 encodes thioredoxin domain-containing protein 15, a protein disulfide isomerase that plays a role in ciliogenesis. Biallelic TXND…
Expanding the mutational spectrum of ReNU syndrome: insights into 5’ Stem-loop variants
A narrow spectrum of heterozygous variants in RNU4-2, encoding the small nuclear RNA (snRNA) U4, underlies ReNU syndrome, a neurodevelopment…
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD…
NDUFB7 mutations cause brain neuronal defects, lactic acidosis, and mitochondrial dysfunction in humans and zebrafish
Complex I of the mitochondrial electron transfer chain is one of the largest membrane protein assemblies ever discovered. A patient carrying a homo…