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Definitions and classification of malformations of cortical development: practical guidelines

Brain (London, England : 1878), 2020-10, Vol.143 (10), p.2874-2894

2020

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Polymicrogyria: A common and heterogeneous malformation of cortical development

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-06, Vol.166C (2), p.227-239

2014

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Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2

Neurology, 2023-07, Vol.101 (2), p.78

2023

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Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures

American journal of human genetics, 2015-05, Vol.96 (5), p.808-815

2015

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Somatic Mutations in Cerebral Cortical Malformations

The New England journal of medicine, 2014-08, Vol.371 (8), p.733-743

2014

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Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

American journal of human genetics, 2014-12, Vol.95 (6), p.729-735

2014

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Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

Annals of neurology, 2016-01, Vol.79 (1), p.132-137

2016

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Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy

Neurology, 2020-11, Vol.95 (18), p.e2542

2020

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DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons

Neurobiology of disease, 2018-06, Vol.114, p.184-193

2018

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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis

International journal of molecular sciences, 2022-01, Vol.23 (3), p.1344

2022

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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

PLoS genetics, 2018-05, Vol.14 (5), p.e1007281-e1007281

2018

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Large-scale functional network dynamics in human callosal agenesis: Increased subcortical involvement and preserved laterality

NeuroImage (Orlando, Fla.), 2021-11, Vol.243, p.118471-118471, Article 118471

2021

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International consensus recommendations on the diagnostic work-up for malformations of cortical development

Nature reviews. Neurology, 2020-11, Vol.16 (11), p.618-635

2020

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Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

American journal of human genetics, 2013-05, Vol.92 (5), p.774-780

2013

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Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

American journal of human genetics, 2016-08, Vol.99 (2), p.423-429

2016

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A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

Cell reports (Cambridge), 2018-12, Vol.25 (10), p.2729-2741.e6

2018

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Pathogenic Variants in GPC4 Cause Keipert Syndrome

American journal of human genetics, 2019-05, Vol.104 (5), p.914-924

2019

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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Brain (London, England : 1878), 2013-11, Vol.136 (Pt 11), p.3378-3394

2013

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Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

PloS one, 2015-05, Vol.10 (5), p.e0127045-e0127045

2015

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The histopathology of polymicrogyria: a series of 71 brain autopsy studies

Developmental medicine and child neurology, 2016-01, Vol.58 (1), p.39-48

2016

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Neuropsychological Profile of Agenesis of the Corpus Callosum: A Systematic Review

Developmental neuropsychology, 2013-01, Vol.38 (1), p.36-57

2013

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Malformations of cortical development and epilepsy

Dialogues in clinical neuroscience, 2008-03, Vol.10 (1), p.47-62

2008

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Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

Annals of clinical and translational neurology, 2019-07, Vol.6 (7), p.1338-1344

2019

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Definitions and classification of malformations of cortical development: practical guidelines

Polymicrogyria: A common and heterogeneous malformation of cortical development

Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures

Somatic Mutations in Cerebral Cortical Malformations

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

Large-scale functional network dynamics in human callosal agenesis: Increased subcortical involvement and preserved laterality

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

International consensus recommendations on the diagnostic work-up for malformations of cortical development

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

Pathogenic Variants in GPC4 Cause Keipert Syndrome

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

The histopathology of polymicrogyria: a series of 71 brain autopsy studies

Neuropsychological Profile of Agenesis of the Corpus Callosum: A Systematic Review

Malformations of cortical development and epilepsy

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

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