Profound global developmental delay

Nuclear pore complex (NPC) is a fundamental component of the nuclear envelope and is key to the nucleocytoplasmic transport… Expand

Biallelic mutations in NALCN are responsible for infantile hypotonia with psychomotor retardation and characteristic facies 1… Expand

The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system… Expand

INTRODUCTION Early onset epileptic encephalopathies (EOEEs) are a group of devastating diseases, manifesting in the first year of… Expand

Next-generation sequencing has accelerated the identification of disease genes in many rare genetic disorders including early… Expand

We present a 4-year-old girl with profound global developmental delay and refractory epilepsy characterized by multiple seizure… Expand

We describe an 11 month old female with Prader-Willi syndrome (PWS) resulting from an atypically large deletion of proximal 15q… Expand

RNA exosomes are multi-subunit complexes conserved throughout evolution and are emerging as the major cellular machinery for… Expand

Statins are considered to be a standard treatment for hyperlipidemia. Central nervous system, limb and midline defects have been… Expand

The diagnosis of Angelman syndrome (AS) has seldom been made in infants because the previously described characteristic… Expand