A developmental and genetic classification for malformations of cortical development: update 2012

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

(2011) Danai Bem et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

(2011) Tania López-Hernández et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

(2011) Mehmet Bakircioglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

(2011) Fowzan S. Alkuraya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bottom-of-Sulcus Dysplasia: Imaging Features

(2011) Paul A. M. Hofman et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

Development and Evolution of the Human Neocortex

(2011) Jan H. Lui et al.   CELL

A vertebrate N-end rule degron reveals that Orc6 is required in mitosis for daughter cell abscission

(2011) Juan A. Bernal et al.   JOURNAL OF CELL BIOLOGY

The Stil protein regulates centrosome integrity and mitosis through suppression of Chfr

(2011) A. Castiel et al.   JOURNAL OF CELL SCIENCE

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

(2011) R. Pilarski et al.   JOURNAL OF MEDICAL GENETICS

Polymicrogyria Includes Fusion of the Molecular Layer and Decreased Neuronal Populations But Normal Cortical Laminar Organization

(2011) Alexander R. Judkins et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Fukutin-Related Protein Alters the Deposition of Laminin in the Eye and Brain

(2011) M. R. Ackroyd et al.   JOURNAL OF NEUROSCIENCE

Robo1 Regulates Semaphorin Signaling to Guide the Migration of Cortical Interneurons through the Ventral Forebrain

(2011) L. R. Hernandez-Miranda et al.   JOURNAL OF NEUROSCIENCE

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

(2011) Duane L Guernsey et al.   NATURE GENETICS

Recessive LAMC3 mutations cause malformations of occipital cortical development

(2011) Tanyeri Barak et al.   NATURE GENETICS

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination

(2011) R. Luo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans

(2011) Cassandre Labelle-Dumais et al.   PLoS Genetics

Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell

(2010) Shireena A. Yasin et al.   ACTA NEUROPATHOLOGICA

The application of cortical layer markers in the evaluation of cortical dysplasias in epilepsy

(2010) George Hadjivassiliou et al.   ACTA NEUROPATHOLOGICA

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III

(2010) Gordana Juric-Sekhar et al.   ACTA NEUROPATHOLOGICA

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

(2010) Keith W. McLarren et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

(2010) Melissa B. Ramocki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

(2010) Mary C. O'Driscoll et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

(2010) Maila Giannandrea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature

(2010) Sophia Kitsiou-Tzeli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma

(2010) Sabine Grønborg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neuroradiologic Features ofCASKMutations

(2010) J. Takanashi et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Primary cellular meningeal defects cause neocortical dysplasia and dyslamination

(2010) Jonathan H. Hecht et al.   ANNALS OF NEUROLOGY

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

(2010) Nadia Bahi-Buisson et al.   BRAIN

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

(2010) Yasmin Namavar et al.   BRAIN

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

(2010) Richard J. Leventer et al.   BRAIN

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

(2010) Vincent Cantagrel et al.   CELL

Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence

(2010) Jana Behunova et al.   CLINICAL DYSMORPHOLOGY

Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly

(2010) Petter Strømme et al.   CLINICAL GENETICS

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)

(2010) R. Salonen et al.   CLINICAL GENETICS

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum

(2010) J Van Reeuwijk et al.   CLINICAL GENETICS

MRI analysis of sulcation morphology in polymicrogyria

(2010) Anthony James Barkovich   EPILEPSIA

Low-grade focal cortical dysplasia is associated with prenatal and perinatal brain injury

(2010) Pavel Krsek et al.   EPILEPSIA

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

(2010) Ingmar Blümcke et al.   EPILEPSIA

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

(2010) Deborah J Morris-Rosendahl et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation and severe speech impairment

(2010) Nicola Brunetti-Pierri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

(2010) Guntram Borck et al.   HUMAN GENETICS

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

(2010) Karine Poirier et al.   HUMAN MOLECULAR GENETICS

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

(2010) Ravinesh A. Kumar et al.   HUMAN MOLECULAR GENETICS

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

(2010) Patrice Roll et al.   HUMAN MOLECULAR GENETICS

Immunohistochemical analysis of developmental neural antigen expression in the balloon cells of focal cortical dysplasia

(2010) Chang-Woo Han et al.   JOURNAL OF CLINICAL NEUROSCIENCE

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

(2010) H. Darvish et al.   JOURNAL OF MEDICAL GENETICS

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

Early Progenitor Cell Marker Expression Distinguishes Type II From Type I Focal Cortical Dysplasias

(2010) Ksenia A. Orlova et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Heterogeneity in Ventricular Zone Neural Precursors Contributes to Neuronal Fate Diversity in the Postnatal Neocortex

(2010) E. K. Stancik et al.   JOURNAL OF NEUROSCIENCE

Novel Embryonic Neuronal Migration and Proliferation Defects in Dcx Mutant Mice Are Exacerbated by Lis1 Reduction

(2010) T. Pramparo et al.   JOURNAL OF NEUROSCIENCE

Genetic Fate Mapping Reveals That the Caudal Ganglionic Eminence Produces a Large and Diverse Population of Superficial Cortical Interneurons

(2010) G. Miyoshi et al.   JOURNAL OF NEUROSCIENCE

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

(2010) Kaya Bilgüvar et al.   NATURE

Neurogenic radial glia in the outer subventricular zone of human neocortex

(2010) David V. Hansen et al.   NATURE

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

(2010) Enza Maria Valente et al.   NATURE GENETICS

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

(2010) Timothy W Yu et al.   NATURE GENETICS

WDR62 is associated with the spindle pole and is mutated in human microcephaly

(2010) Adeline K Nicholas et al.   NATURE GENETICS

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype

(2010) Uluc Yis et al.   NEUROMUSCULAR DISORDERS

Current concepts of polymicrogyria

(2010) A. James Barkovich   NEURORADIOLOGY

Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex

(2010) Petrus J. Vries   Neurotherapeutics

Lmx1a regulates fates and location of cells originating from the cerebellar rhombic lip and telencephalic cortical hem

(2010) V. V. Chizhikov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Guiding Neuronal Cell Migrations

(2010) O. Marin et al.   Cold Spring Harbor Perspectives in Biology

A Novel Role for Dbx1-Derived Cajal-Retzius Cells in Early Regionalization of the Cerebral Cortical Neuroepithelium

(2010) Amélie Griveau et al.   PLOS BIOLOGY

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

(2009) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly

(2009) Arun Kumar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

(2009) Christiane Zweier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

(2009) Mohammad R. Abdollahi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

(2009) Katie M.G. Snape et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Syndrome of Megalencephaly, Polydactyly, and Polymicrogyria Lacking Frank Hydrocephalus, with Associated MR Imaging Findings: Fig 1.

(2009) H.G. Tore et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Retinoic Acid from the Meninges Regulates Cortical Neuron Generation

(2009) Julie A. Siegenthaler et al.   CELL

Mechanisms Underlying the Specification, Positional Regulation, and Function of the Cortical Hem

(2009) L. Subramanian et al.   CEREBRAL CORTEX

Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

(2009) DJ Morris-Rosendahl et al.   CLINICAL GENETICS

Sublobar dysplasia—A clinicopathologic report after successful epilepsy surgery

(2009) Ingrid Tuxhorn et al.   EPILEPSIA

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

(2009) G Sole et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The Transition from Radial Glial to Intermediate Progenitor Cell Is Inhibited by FGF Signaling during Corticogenesis

(2009) W. Kang et al.   JOURNAL OF NEUROSCIENCE

Regulation of Radial Glial Survival by Signals from the Meninges

(2009) R. Radakovits et al.   JOURNAL OF NEUROSCIENCE

Cyclin D2 Is Critical for Intermediate Progenitor Cell Proliferation in the Embryonic Cortex

(2009) S. B. Glickstein et al.   JOURNAL OF NEUROSCIENCE

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

(2009) Xavier Hubert Jaglin et al.   NATURE GENETICS

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

(2009) M. C. Y. de Wit et al.   NEUROGENETICS

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

(2009) S. Passemard et al.   NEUROLOGY

Layer-specific genes reveal a rudimentary laminar pattern in human nodular heterotopia

(2009) R. Garbelli et al.   NEUROLOGY

Fgf10 Regulates Transition Period of Cortical Stem Cell Differentiation to Radial Glia Controlling Generation of Neurons and Basal Progenitors

(2009) Setsuko Sahara et al.   NEURON

Sex-dependent association of common variants of microcephaly genes with brain structure

(2009) L. M. Rimol et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Netrin-1- 3 1 integrin interactions regulate the migration of interneurons through the cortical marginal zone

(2009) A. Stanco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular mechanisms of projection neuron production and maturation in the developing cerebral cortex

(2009) Yohann Mérot et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Genes and signaling events that establish regional patterning of the mammalian forebrain

(2009) Renée V. Hoch et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects

(2009) Xavier H. Jaglin et al.   TRENDS IN GENETICS

Primary microcephaly: do all roads lead to Rome?

(2009) Gemma K. Thornton et al.   TRENDS IN GENETICS

Decision by division: making cortical maps

(2009) Pasko Rakic et al.   TRENDS IN NEUROSCIENCES

Gradients in the Brain: The Control of the Development of Form and Function in the Cerebral Cortex

(2009) S. N. Sansom et al.   Cold Spring Harbor Perspectives in Biology

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

(2008) Gregor D. Gilfillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo-TORCH” phenotype

(2008) T.A. Briggs et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

(2008) Julie Desir et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27

(2008) Neide F. Santos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

No major role for theEMX2gene in schizencephaly

(2008) Elisa Merello et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family

(2008) L. Al-Gazali et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

(2008) William B. Dobyns et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

(2008) Emma Clement et al.   ANNALS OF NEUROLOGY

Phenotypic spectrum of Fukutinopathy: Most severe phenotype of Fukutinopathy

(2008) Mieko Yoshioka   BRAIN & DEVELOPMENT

Origins of Cortical GABAergic Neurons in the Cynomolgus Monkey

(2008) Z. Petanjek et al.   CEREBRAL CORTEX

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly

(2008) Virginia M. Ginocchio et al.   European Journal of Medical Genetics

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

(2008) Russell J. Ferland et al.   HUMAN MOLECULAR GENETICS

Ethnically diverse causes of Walker-Warburg syndrome (WWS):FCMDmutations are a more common cause of WWS outside of the Middle East

(2008) M. Chiara Manzini et al.   HUMAN MUTATION

Frontal cortex subdivision patterning is coordinately regulated byFgf8,Fgf17, andEmx2

(2008) Jeremy A. Cholfin et al.   JOURNAL OF COMPARATIVE NEUROLOGY

GPR56 Regulates Pial Basement Membrane Integrity and Cortical Lamination

(2008) S. Li et al.   JOURNAL OF NEUROSCIENCE

Zic Deficiency in the Cortical Marginal Zone and Meninges Results in Cortical Lamination Defects Resembling Those in Type II Lissencephaly

(2008) T. Inoue et al.   JOURNAL OF NEUROSCIENCE

Neurogenin 2 controls cortical neuron migration through regulation of Rnd2

(2008) Julian Ik-Tsen Heng et al.   NATURE

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

(2008) Juliane Najm et al.   NATURE GENETICS

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

(2008) C. Cardoso et al.   NEUROLOGY

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

(2008) L. Van Maldergem et al.   NEUROLOGY

Postmitotic Nkx2-1 Controls the Migration of Telencephalic Interneurons by Direct Repression of Guidance Receptors

(2008) Sandrina Nóbrega-Pereira et al.   NEURON

A Time and a Place for Nkx2-1 in Interneuron Specification and Migration

(2008) Laura A.B. Elias et al.   NEURON

SOX5 Controls the Sequential Generation of Distinct Corticofugal Neuron Subtypes

(2008) Tina Lai et al.   NEURON

The Fezf2-Ctip2 genetic pathway regulates the fate choice of subcortical projection neurons in the developing cerebral cortex

(2008) B. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE

Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p

(2007) Katarzyna Gawlik-Kuklinska et al.   European Journal of Medical Genetics