Malformations of cortical development: clinical features and genetic causes

R Guerrini, WB Dobyns - The Lancet Neurology, 2014 - thelancet.com
Malformations of cortical development are common causes of developmental delay and
epilepsy. Some patients have early, severe neurological impairment, but others have …

Genetic basis of brain malformations

E Parrini, V Conti, WB Dobyns, R Guerrini - Molecular syndromology, 2016 - karger.com
Malformations of cortical development (MCD) represent a major cause of developmental
disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been …

G protein-coupled receptor-dependent development of human frontal cortex

X Piao, RS Hill, A Bodell, BS Chang… - Science, 2004 - science.org
The mammalian cerebral cortex is characterized by complex patterns of anatomical and
functional areas that differ markedly between species, but the molecular basis for this …

Sodium channel SCN3A (NaV1. 3) regulation of human cerebral cortical folding and oral motor development

RS Smith, CJ Kenny, V Ganesh, A Jang… - Neuron, 2018 - cell.com
Channelopathies are disorders caused by abnormal ion channel function in differentiated
excitable tissues. We discovered a unique neurodevelopmental channelopathy resulting …

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

RJ Leventer, A Jansen, DT Pilz, N Stoodley, C Marini… - Brain, 2010 - academic.oup.com
Polymicrogyria is one of the most common malformations of cortical development and is
associated with a variety of clinical sequelae including epilepsy, intellectual disability, motor …

Neuronal migration disorders

R Guerrini, E Parrini - Neurobiology of disease, 2010 - Elsevier
Lissencephaly–pachygyria-severe band heterotopia are diffuse neuronal migration
disorders (NMDs) causing severe, global neurological impairment. Abnormalities of the …

Malformations of cortical development and epilepsy

AJ Barkovich, WB Dobyns… - Cold Spring …, 2015 - perspectivesinmedicine.cshlp.org
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 …

Malformations of cortical development and epilepsy

RJ Leventer, R Guerrini, WB Dobyns - Dialogues in clinical …, 2008 - Taylor & Francis
Malformations of cortical development (MCDs) are macroscopic or microscopic
abnormalities of the cerebral cortex that arise as a consequence of an interruption to the …

Periventricular and subcortical nodular heterotopia A study of 33 patients

F Dubeau, D Tampieri, N Lee, E Andermann… - Brain, 1995 - academic.oup.com
Grey matter heterotopias, demonstrated by MRI, may present with a broad spectrum of
clinical severity. We have studied 33 patients with periventricular nodular heterotopias …

Clinical and imaging features of cortical malformations in childhood

RJ Leventer, EM Phelan, LT Coleman, MJ Kean… - Neurology, 1999 - neurology.org
Objective: To determine the types, relative frequencies, clinical features, and MRI
characteristics of malformations of cortical development (MCD) occurring in a cohort of …