Genetic landscape and phenotypic correlations of lissencephaly: prenatal and postnatal insights.

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

MRI-based spectral analysis of fetal brain gyrification in typical development and in lissencephaly and polymicrogyria.

Roles of microtubules and LIS1 in dynein transport machinery assembly.

Biophysical modeling of anatomically realistic prenatal cortical folding development.

Neonatal-onset epileptic encephalopathy with lissencephaly associated with a SCN3A variant: The first case in Korea and literature review.

Selective Lis1 inactivation disrupts migration and positioning of cortical somatostatin interneurons.

Neuro-ophthalmic disorders resulting from defects in the gamma tubulin ring complex: a clinically oriented review.

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Cobblestone lissencephaly in the setting of congenital cytomegalovirus infection: A case report and review of the literature.

The Baraitser-Winter Cerebrofrontofacial Syndrome Recurrent R196H Variant in Cytoplasmic β-Actin Impairs Its Cellular Polymerization and Stability.

A rare complication of vagus nerve stimulation surgery: the Horner Syndrome. Case report and systematic review.

Rethinking fetal central nervous system anomalies: predicting central nervous system anomalies with corpus callosum to head circumference and occipitofrontal diameter ratios.

Biophysical basis for brain folding and misfolding patterns in ferrets and humans.

COP9 signalosome and PRMT5 methylosome complexes are essential regulators of Lis1-dynein-based transport.

Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.

Subcortical band heterotopia: electroclinical, radiological, and prognostic features in adults.

Diagnosis of Lissencephaly in a Neonate After Antenatal Polyhydramnios and Suspicion of Fetal Esophageal Atresia: A Case Report.

Capturing disease severity in LIS1-lissencephaly reveals proteostasis dysregulation in patient-derived forebrain organoids.

Pearls & Oy-sters: Acute Obstructive Hydrocephalus Co-Occurrence With Vigabatrin-Associated MRI Changes in an Infant With LIS1-Related Classical Lissencephaly.

Neuropathological findings of very low-density lipoprotein receptor-related cerebellar hypoplasia in a full-term fetus.

A clinical and genotype-phenotype analysis of MACF1 variants.

A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing.

Overview and expansion of CEP85L-associated lissencephaly.

Understanding the Molecular Basis of Miller-Dieker Syndrome.

Paediatric cranial ultrasound: abnormalities of the brain in term neonates and young infants.

Spatial Proteomics Reveals Distinct Protein Patterns in Cortical Migration Disorders Caused by LIN28A Overexpression and WNT Activation.

Domain specific phenotypic expansion associated with variants in MACF1.

Tracheal Complications Following Prolonged Invasive Ventilation in Tracheostomized Pediatric Patients with Complex Chronic Conditions.

Multiple steps of dynein activation by Lis1 visualized by cryo-EM.

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.

Identification of MACF1 as a causative gene of generalised epilepsy.

WDR62 controls cortical radial migration and callosal projection of neurons in the developing cerebral cortex.

Altered extracellular matrix structure and elevated stiffness in a brain organoid model for disease.

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Manatee cognition and behavior: a neurobiological perspective on an unusual constellation of senses and a unique brain.

Corpus Callosotomy for Atonic Drop Seizures in Bilateral Malformations of Cortical Development: A Systematic Review of Literature.

A Bioinformatic Investigation into a Unique Human FOXM1 Exon Variant and Its Relevance to Gyrencephaly.

Multidisciplinary approach to reach a foetal diagnosis of Walker-Warburg syndrome: From autopsy to genetics and back.

"Hair-on-end" appearance in thickened cortex in a case of classic lissencephaly due to DCX gene mutation.

P253 Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis.

The response to anti-seizure medications and the development of pharmacoresistant epilepsy in malformations of cortical development.

A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7.

Unilateral schizencephaly open lip with septo optic dysplasia in adult woman with glaucoma: A rare case.

The fetal neurologist: Strategies to improve training, practice, and clinical care.

Fetal malformations of cortical development: review and clinical guidance.

Catatonia in a Patient With Lissencephaly Treated With ECT: A Case Report and Literature Review.

TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review.

Neonatal Microcephaly and Central Nervous System Abnormalities During the Zika Outbreak in Rio de Janeiro.

Immediate Therapeutic Response to Vigabatrin in Lissencephaly-Related Epileptic Spasms due to TUBA1A R402H Variant.

Pt-LIS1 participates nuclear deformation and acrosome formation via regulating Dynein-1 during spermatogenesis in Portunus trituberculatus.

Doublecortin restricts neuronal branching by regulating tubulin polyglutamylation.

DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report.

NuMA is a mitotic adaptor protein that activates dynein and connects it to microtubule minus ends.

Dab1 expression level controls Reelin-induced PI3K-Akt activation in early GABAergic neurons.

A Novel MACF1 Gene Mutation: Expanding the Fetal and Neonatal Phenotype.

Coexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance.

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.

Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria.

CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum.

Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.

Doublecortin reinforces microtubules to promote growth cone advance in soft environments.

Lissencephaly with subcortical band heterotopia in an East African child: A case report.

Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods.

Morphometric Development of Medial Surface of Cerebrum in Fetal Cadavers.

Cryo-EM visualizes multiple steps of dynein's activation pathway.

The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant.

A novel missense variant in the RELN gene in sheep with lissencephaly and cerebellar hypoplasia.

[Malformations of cortical development: what's new?].

Walker-Warburg syndrome: A case report of congenital muscular dystrophy with hydrocephalus.

Cobblestone lissencephaly (Type II), clinical, and neuroimaging: A case report and literature review.

[Genetic analysis of a child with pachygyria due to variant of ADGRG1 gen].

tubg1 Somatic Mutants Show Tubulinopathy-Associated Neurodevelopmental Phenotypes in a Zebrafish Model.

Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.

A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.

Sonographic Cortical Development and Anomalies in the Fetus: A Systematic Review and Meta-Analysis.

Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly.

Role of Physiotherapy in Pediatric Lissencephaly: A Case Report and Therapeutic Insights.

DCX knockout ferret reveals a neurogenic mechanism in cortical development.

De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.

Lissencephaly and Advanced-Stage Congenital Cytomegalovirus Infection in a Neonate.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Altered thalamocortical tract trajectory growth with undisrupted thalamic parcellation pattern in human lissencephaly brain at mid-gestational stage.

Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case.

Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review.

Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.

Total callosotomy ameliorates epileptic activity and improves cognitive function in a patient with Miller-Dieker syndrome.

Lissencephaly: presentation of a clinical case of LIS 1 with a diagnosis confirmed by MLPA method and indications for rehabilitation treatment in childhood.

Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection.

PRDM16 co-operates with LHX2 to shape the human brain.

Molecular mechanism of dynein-dynactin complex assembly by LIS1.

PAEDIATRIC SYMPTOMATIC SEIZURES IN INDIA: UNRAVELLING VARIED ETIOLOGIES AND NEUROIMAGING PATTERNS - A MULTICENTRIC STUDY.

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

NUDC is critical for rod photoreceptor function, maintenance, and survival.

Diagnostic work-up in malformations of cortical development.

Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.

Extensive Phenotypic Variability in Syndrome Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly, and Lissencephaly (DREAM-PL): A Case Report Highlighting Diagnostic and Management Challenges.

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus.

The people behind the papers - Meng-Han Tsai, Wan-Cian Lin and Jin-Wu Tsai.

Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.

A lissencephaly-associated BAIAP2 variant causes defects in neuronal migration during brain development.

Brain Pathways in LIS1-Associated Lissencephaly Revealed by Diffusion MRI Tractography.

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.

Expanding association between BICD2 variants and brain malformations and associated lissencephaly.

Bálint syndrome in a patient with drug-resistant epilepsy having underlying X-linked lissencephaly with subcortical band heterotopia/"double cortex" syndrome.

OPTIC NERVE HYPOPLASIA AND BILATERAL PERSISTENT FETAL VASCULATURE DUE TO TUBA1A TUBULINOPATHY.

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Automatic Quantification of Normal Brain Gyrification Patterns and Changes in Fetuses with Polymicrogyria and Lissencephaly Based on MRI.

DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature.

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation.

Exacerbated Zika virus-induced neuropathology and microcephaly in fetuses of dengue-immune nonhuman primates.

Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.

Brain pathology of lissencephaly type 2 with an ISPD pathogenic variant.

The people behind the papers - Matt Matrongolo and Max Tischfield.

[Analysis of ARX gene variant in a child with X-linked lissencephaly with abnormal genitalia].

Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.

The Control of Cortical Folding: Multiple Mechanisms, Multiple Models.

Lis1 relieves cytoplasmic dynein-1 autoinhibition by acting as a molecular wedge.

Loss of Twist1 and balanced retinoic acid signaling from the meninges causes cortical folding in mice.

X-linked neuronal migration disorders: Gender differences and insights for genetic screening.

Acute Bowel Ischemia in a Premature Neonate with Miller-Dieker Syndrome and Anomalous Right Coronary Artery From the Pulmonary Artery.

Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases.

Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder.

Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.

Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia.

Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2.

Microtubule-binding-induced allostery triggers LIS1 dissociation from dynein prior to cargo transport.

LIS1 RNA-binding orchestrates the mechanosensitive properties of embryonic stem cells in AGO2-dependent and independent ways.

Anesthetic Management and Bispectral Index in a Child with Miller-Dieker Syndrome: A Case Report.

Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.

Schizencephaly diagnosed after an episode of seizure during labor: A case report.

PAFAH1B1 Gene Deletion-Associated Classic Lissencephaly and Infantile Spasms.

Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

MAPping tubulin mutations.

A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.

Missed diagnosis of lissencephaly after prenatal diagnosis: A case report.

Modeling congenital brain malformations with brain organoids: a narrative review.

Lissencephaly with Congenital Hypothyroidism: A Case Report.

Prenatal diagnosis of SMPD4 loss - A neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies.

Structures of human dynein in complex with the lissencephaly 1 protein, LIS1.

Lissencephaly-1 mutations enhance traumatic brain injury outcomes in Drosophila.

Malformation of the Cortical Development Associated with Severe Clusters of Epileptic Seizures.

RanBP9 controls the oligomeric state of CTLH complex assemblies.

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.

Role of intracortical neuropil growth in the gyrification of the primate cerebral cortex.

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.

Spectrum of brain malformations in fetuses with mild tubulinopathy.

Doublecortin and JIP3 are neural-specific counteracting regulators of dynein-mediated retrograde trafficking.

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.

Human SERPINA3 induces neocortical folding and improves cognitive ability in mice.

Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report.

Familial posterior predominant subcortical band heterotopia caused by a CEP85L missense mutation.

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.

Lis1-dynein drives corona compaction and limits erroneous microtubule attachment at kinetochores.

Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

MiR-582 Down-Regulates Lissencephaly-1 (LIS1) via P-Akt and MMP-2 to Inhibit Cholangiocarcinoma Cell Proliferation and Invasion.

Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene.

Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.

Imaging of Congenital Malformations of the Brain.

LIS1 interacts with CLIP170 to promote tumor growth and metastasis via the Cdc42 signaling pathway in salivary gland adenoid cystic carcinoma.

Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.

Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.

Tubulin mutations in human neurodevelopmental disorders.

A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.

Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy.

Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies.

Catatonic syndrome and Baraitser Winter syndrome: Case report and review of the literature.

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Fetal Brain Development: Regulating Processes and Related Malformations.

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.

Loss of BAF (mSWI/SNF) chromatin-remodeling ATPase Brg1 causes multiple malformations of cortical development in mice.

Generation of FLAG-tagged Arx knock-in mouse model.

Brain Organization and Human Diseases.

Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.

Lissencephaly causing refractory neonatal seizures in a term neonate.

Lack of association of TP73 with amyotrophic lateral sclerosis in a large cohort of cases.

TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics.

LIS1 and NDEL1 Regulate Axonal Trafficking of Mitochondria in Mature Neurons.

Quantitative Structural Brain Magnetic Resonance Imaging Analyses: Methodological Overview and Application to Rett Syndrome.

A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects.

Perioperative total intravenous anesthesia in a child with Walker-Warburg syndrome: A case report.

Long-term Outcome of Epilepsy and Cortical Malformations Due to Abnormal Migration and Postmigrational Development: A Cohort Study.

Ambiguous Genitalia and Lissencephaly in A 46,XY Neonate with a Novel Variant of Aristaless Gene.

Stem cell-based region-specific brain organoids: Novel models to understand neurodevelopmental defects.

Structural Consequence of Non-Synonymous Single-Nucleotide Variants in the N-Terminal Domain of LIS1.

Novel finding of lissencephaly and severe osteopenia in a Chinese patient with SATB2-associated syndrome and a brief review of literature.

[Genetic and clinical analysis of KIF2A gene variant in a Chinese patient with complex cortical dysplasia and other brain malformations].

Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics.

Abnormalities in Cortical GABAergic Interneurons of the Primary Motor Cortex Caused by Lis1 (Pafah1b1) Mutation Produce a Non-drastic Functional Phenotype.