Collaborator: University Medical Center Leipzig

• RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

• Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

• De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

• HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

  Abstract Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants altering HCN channels have been reported so far. In 2014, we described five individuals with epileptic encephalopathy due to de novo HCN1 variants. To delineate HCN1-related disorders and investigate genotype–phenotype correlations further,…

• De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

• De novo variants in SNAP25 cause a spectrum of developmental and epileptic encephalopathy

  April 2, 2026

• De novo variants in GRIA4 lead to intellectual disability with or without seizures and gait abnormalities

  Abstract Using trio whole-exome sequencing, we have identified de novo heterozygous pathogenic variants in GRIA4 in five unrelated individuals with intellectual disability and other symptoms. GRIA4 encodes an AMPA receptor subunit known as GluR4, which is found on excitatory glutamatergic synapses and is important for learning and memory. Four of the variants are located in…