LINS1-associated neurodevelopmental disorder

Epilepsy as a Neurodevelopmental Disorder

Epilepsy is characterized by spontaneous recurrent seizures and comprises a diverse group of syndromes with different etiologies. Epileptogenesis refers to the process whereby the brain becomes epileptic and can be related to several factors, such as acquired structural brain lesions, inborn brain malformations, alterations in neuronal signaling, and defects in maturation and plasticity of neur...

Is schizophrenia a neurodevelopmental disorder?

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

OBJECTIVE To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. METHODS We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review ...

Rett syndrome: a prototypical neurodevelopmental disorder.

Rett syndrome, one of the leading causes of mental retardation and developmental regression in girls, is the first pervasive developmental disorder with a known genetic cause. The majority of cases of sporadic Rett syndrome are caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 binds methylated DNA and likely regulates gene expression and chromatin structure. G...

Schizophrenia is (not simply) a neurodevelopmental disorder.

Schizophrenia affects almost 1% of the population at some point in their life. It occurs in all geographic areas in which studies have been done, although the outcome appears to be better in developing countries. In this editorial we will discuss the evidence, from epidemiological, genetic and neuroimaging studies, that suggests that schizophrenia is in part a neurodevelopmental disorder. Howev...