Malformations of cortical development (MCDs) are neurodevelopmental disorders that result
from abnormal development of the cerebral cortex in utero. MCDs place a substantial …

Malformations of cortical development (MCDs) are an important cause of epilepsy and an
extremely interesting group of disorders from the perspective of brain development and its …

The X‐linked filaminopathies represent a diverse group of clinical conditions, all caused by
variants in the gene FLNA. FLNA encodes the widely expressed actin binding protein …

Periventricular nodular heterotopia (PVNH) is a malformation of cortical development
commonly associated with epilepsy. We exome sequenced 202 individuals with sporadic …

Background Abnormal intracranial findings are often detected at mid‐trimester ultrasound
(US) in fetuses with myelomeningocele (MMC). It is unclear whether these findings …

Muscle ultrasound is an ideal imaging modality that allows for noninvasive, radiation-free
point-of-care neuromuscular imaging. There are many potential applications of muscle …

Abstract Purpose of Review Epilepsy associated with periventricular nodular heterotopia
(PNH), a developmental malformation, is frequently drug-resistant and requires focal …

Abstract Objective Nodular heterotopias (NHs) are malformations of cortical development
associated with drug‐resistant focal epilepsy with frequent poor surgical outcome. The …

Disorders of neuronal mispositioning during brain development are phenotypically
heterogeneous and their genetic causes remain largely unknown. Here, we report biallelic …

X-linked cerebellar ataxias (XLCA) are an expanding group of genetically heterogeneous
and clinically variable conditions characterized by cerebellar dysgenesis (hypoplasia …