SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic
synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and …

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Na v 1.2, have
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …

Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS)
are clinically related developmental disorders that have been recently linked to …

Hyperpolarization-activated, cyclic nucleotide–gated (HCN) channels contribute to cationic I
h current in neurons and regulate the excitability of neuronal networks. Studies in rat models …

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising
craniofacial malformations, microcephaly, developmental delay, and a recognizable …

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations
of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role …

Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding
the NMDA receptor subunit GluN1 and to investigate their underlying functional …

Purpose To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5,
NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the …

Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1
mutations and to investigate genotype–phenotype correlations. Methods We sequenced …