Malformations of cortical development encompass heterogeneous groups of structural brain
anomalies associated with complex neurodevelopmental disorders and diverse genetic and …

Megalencephaly (MEG) is a developmental abnormality of brain growth characterized by
early onset, often progressive, brain overgrowth. Focal forms of megalencephaly associated …

An expansion of the cerebral neocortex is thought to be the foundation for the unique
intellectual abilities of humans. It has been suggested that an increase in the proliferative …

The relationships between impaired cortical development and consequent malformations in
neurodevelopmental disorders, as well as the genes implicated in these processes, are not …

The signaling lipid phosphatidylinositol 3, 4, 5, trisphosphate (PIP3) is an essential mediator
of many vital cellular processes, including growth, survival, and metabolism. PIP3 is …

Focal cortical dysplasia (FCD) type II is a highly epileptogenic developmental malformation
and a common cause of surgically treated drug-resistant epilepsy. While clinical …

Corpus callosum malformations are associated with a broad range of neurodevelopmental
diseases. We report that de novo mutations in MAST1 cause mega-corpus-callosum …

Objective We sought to identify novel genes and to establish the contribution of known
genes in a large cohort of patients with nonsyndromic sporadic polymicrogyria and epilepsy …

Hydrocephalus (HC) is a heterogenous disease characterized by alterations in
cerebrospinal fluid (CSF) dynamics that may cause increased intracranial pressure. HC is a …

Objective Mutations in phosphatidylinositol‐4, 5‐bisphosphate 3‐kinase (PI3K) complex
have been associated with a broad spectrum of brain and organ overgrowth syndromes. For …