Neuronal migration disorders are a clinically and genetically heterogeneous group of
malformations of cortical development, frequently responsible for severe disability. Despite the …

As a whole neurogenetic diseases are a common group of neurological disorders. However,
the recognition and molecular diagnosis of these disorders is not always straightforward. …

… In one of then we were able to identified only one pathogenic variant (c.1568T>A;p.Val523Glu) …
In case 17 we found a heterozygous likely pathogenic variant (c.C668A;ProA223Asp) in …

… is not uncommon in these neurodevelopmental disorders; b-the molecular diagnostic approach
should involve the use of state-of-the-art methods and the sampling of different tissues; c-…

Background GenIO is a novel web-server, designed to assist clinical genomics researchers
and medical doctors in the diagnostic process of rare genetic diseases. The tool identifies …

Background Early-onset epileptic encephalopathies with burst suppression (EOEE-BS) are
a group of neonatal epileptic syndromes characterized by intractable epilepsy and severe …

… Hemizygous DCX missense variants within the N-terminal DC tandem repeat domain tend
to result in more severe forms of lissencephaly than missense variants in the C-DC domain. …

Background. The genomic era has led to enormous progress in clinical care and a multi-disciplinary
team (MDT) approach is imperative for integration of genomics into epilepsy patient …

Cortical development depends on neuronal migration of both excitatory and inhibitory
interneurons. Neuronal migration disorders (NMDs) are conditions characterised by anatomical …

… Can be indistinguishable from PAFAH1B1 phenotype, esp in persons w/TUBA1A variant
c.… Seven WD40 repeats at the C terminus are necessary for protein-protein interactions […