GeneReviews, an international point-of-care resource for busy clinicians, provides clinically
relevant and medically actionable information for inherited conditions in a standardized …

The delineation of disease entities is complex, yet recent advances in the molecular
characterization of diseases provide opportunities to designate diseases in a biologically …

Megalencephaly (MEG) is a developmental disorder characterized by brain overgrowth that
occurs due to either increased number or size of neurons and glial cells. The former may be …

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-
polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders …

Malformations of cortical development containing dysplastic neuronal and glial elements,
including hemimegalencephaly and focal cortical dysplasia, are common causes of …

Invertebrate model systems are powerful tools for studying human disease owing to their
genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal …

Importance Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly
constitute a spectrum of malformations of cortical development with shared neuropathologic …

The macrocephaly‐capillary malformation syndrome (M‐CM), which we here propose to
rename the megalencephaly‐capillary malformation syndrome (MCAP; alternatively the …

The megalencephaly‐polymicrogyria‐polydactyly‐hydrocephalus (MPPH) and
megalencephaly‐capillary malformation (MCAP) syndromes are highly recognizable and …

Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian
disorders, particularly for individuals in whom a known clinical entity could not be assigned …