Keyword

polymicrogyria

Description: A congenital brain malformation involving unusually numerous, small folds of the cerebral cortex and abnormal cortical development.

Primary topic: Fetal and Pediatric Neurological Disorders (45%)

Wikidata ID: wiki/Q2991265

OpenAlex ID: keywords/polymicrogyria

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

2012 · Jean-Baptiste Rivière, Ghayda M Mirzaa, et al. · Nature Genetics · 741

A developmental and genetic classification for malformations of cortical development

2005 · A. J. Barkovich, R. I. Kuzniecky, et al. · Neurology · 725

Cytoarchitectonic abnormalities in developmental dyslexia: A case study

1979 · Albert M. Galaburda, Thomas L. Kemper · Annals of Neurology · 607

Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumour and dysgenesis of the archicortex in epilepsy: Clinical, EEG and neuroimaging features in 100 adult patients

1995 · A. A. Raymond, D. R. Fish, et al. · Brain · 539

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

2010 · Kaya Bilgüvar, Ali Kemal Öztürk, et al. · Nature · 503

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Intracranial electroencephalographic seizure-onset patterns: effect of underlying pathology

2013 · Piero Perucca, François Dubeau, et al. · Brain · 461

Gyrification from constrained cortical expansion

2014 · Tuomas Tallinen, Jun Young Chung, et al. · Proceedings of the National Academy of Sciences · 422

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Mechanics of the brain: perspectives, challenges, and opportunities

2015 · Alain Goriely, Marc G. D. Geers, et al. · Biomechanics and Modeling in Mechanobiology · 371

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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

2006 · E. Parrini · Brain · 365

Clinical outcomes of hemispherectomy for epilepsy in childhood and adolescence

2003 · A. M. Devlin · Brain · 359

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

2014 · Nadia Bahi-Buisson, Karine Poirier, et al. · Brain · 325

Congenital bilateral perisylvian syndrome: study of 31 patients

1993 · R KUZNIECKY · The Lancet · 321

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

2016 · Marije E.C. Meuwissen, Rachel Schot, et al. · The Journal of Experimental Medicine · 294

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Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations.

1994 · A J Barkovich, C E Lindan · PubMed · 294

Surgery for malformations of cortical development causing epilepsy

2000 · S. M. Sisodiya · Brain · 266

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

2010 · Richard J. Leventer, Anna Jansen, et al. · Brain · 265

Neuronal migration disorders

2009 · Renzo Guerrini, Elena Parrini · Neurobiology of Disease · 263

Schizencephaly: correlation of clinical findings with MR characteristics.

1992 · A J Barkovich, B O Kjos · PubMed · 254

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

2017 · Konrad Platzer, Hongjie Yuan, et al. · Journal of Medical Genetics · 252

The role of mechanics during brain development

2014 · Silvia Budday, Paul Steinmann, et al. · Journal of the Mechanics and Physics of Solids · 246

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Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes

2003 · Joseph G. Gleeson, Lesley C. Keeler, et al. · American Journal of Medical Genetics Part A · 246

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

2008 · Renzo Guerrini, William B. Dobyns, et al. · Trends in Neurosciences · 241

Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

2012 · Ghayda M. Mirzaa, Robert L. Conway, et al. · American Journal of Medical Genetics Part A · 240

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Malformations of cortical development and epilepsy

2008 · Richard J. Leventer, Renzo Guerrini, et al. · Dialogues in Clinical Neuroscience · 234

The Spectrum of Cranial Ultrasound and Magnetic Resonance Imaging Abnormalities in Congenital Cytomegalovirus Infection

2004 · L. S. De Vries, H. Gunardi, et al. · Neuropediatrics · 229

Works count: 2,096

Citation count: 44,850