Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome.

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.

Fetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review.

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review.

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort.

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.

Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.

Neurological Consequences of Infantile Vitamin B12 Deficiency - A Prospective Cohort Study.

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.

Prospective observational study of magnetic resonance imaging in anti-CD19 CAR T-cell-associated neurotoxicity.

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.

A Case-Control Study On Corpus Callosum Volume and Clinical Correlates in Treatment-Resistant and Responsive Schizophrenia Patients: Addressing MRI Analysis within Single-Subject and a Novel Artificial Intelligence Paradigm.

Aesthetic judgement and appreciation in agenesis of the corpus callosum.

Clinical and Molecular Spectrum of PPP2R1A-Related Neurodevelopmental Disorders: A Systematic Review.

[Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review].

Vigabatrin-Associated Brain Magnetic Resonance Imaging Abnormalities in Two Children With WW domain-containing oxidoreductase-Related Epileptic Encephalopathy Syndrome.

Microstructural White Matter Alterations in Angelman Syndrome: A Fixel-Based Analysis.

Shapiro Syndrome: A Case Report.

Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss.

Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.

From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.

Mild Encephalitis/Encephalopathy With a Reversible Splenial Lesion (MERS) Type II in an Adult: A Case Report and Diagnostic Insight.

Transcription factor 4 regulates the interhemispheric midline remodeling through neuron-astroglia communications during corpus callosum formation.

Chronic interferon-alpha overexpression induces white matter damage and neurovascular abnormalities in a mouse model of Aicardi-Goutières syndrome.

A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.

[Genetic and clinical characteristics in epilepsy patients with ATP6V1A gene variants].

Are NONO variants linked to congenital heart disease? Patient reports and review.

First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders.

Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous IER3IP1 Mutations and Literature Review.

EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.

Characterization of brain microstructural changes in children with infantile vitamin B12 deficiency using diffusion tensor imaging.

Prenatal Diagnosis of Rubinstein-Taybi Syndrome-Reporting Twelve Cases of a Rare Disease.

Neuroteratogenic mechanisms of Zika virus (ZIKV) infection: Insights into fetal brain development disruption and congenital Zika syndrome: A systematic review.

Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?

Abnormal development of corticospinal tracts in children with Tourette syndrome: A single-center retrospective study.

Nasal Glioma in a Newborn With Suspected Pai Syndrome: Surgical and Diagnostic Insights.

Some novel causes and clinical characteristics of reversible splenial lesion syndrome- found in children.

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.

Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability.

Anesthesiologist's Concerns About Dandy-Walker Syndrome: Airway Management, Muscle Relaxants, and Train-of-Four Monitoring of Neuromuscular Blockade.

Rare features in Feingold syndrome type 1.

Reverse Shapiro Syndrome Presenting as Fever of Unknown Origin: A Case Report and Review of the Literature.

Recurrent Spontaneous Hypothermia in an Elderly Woman: A Rare Neurological Case of Late-Onset Shapiro Syndrome.

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Challenges in diagnosing diaphragmatic eventration in a neonate with Fryns syndrome and cleft palate.

Mechanics of the Spatiotemporal Evolution of Sulcal Pits in the Folding Brain.

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Prenatal Characterization of Houge-Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations.

Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.

Fourteen New Pediatric Cases of Shapiro Syndrome.

Diffusion Tensor Imaging in Acute, Chronic, and Remote Mild Traumatic Brain Injury: A Systematic Review of Cross-Sectional and Longitudinal Studies.

c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report.

Extremely rare case report of CEBALID syndrome presenting as congenital arthrogryposis.

Neuroimaging characteristics of single Large-Scale mitochondrial DNA deletion syndromes.

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5.

Clinical Observation on Orbital Teratoma of Delleman Syndrome Diagnosed by Fetal MRI Without Cutaneous Manifestations.

Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2.

Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome.

New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy.

A Clinical Study of Nine Patients With ReNU Syndrome.

Evolving Magnetic Resonance Imaging (MRI) Findings in Immune Effector Cell-Associated Neurotoxicity Syndrome.

Aphallia in a patient with 9q34 duplication syndrome: a case report.

Loss of Asxl1 disrupts telencephalic midline integrity through dysregulation of SIX3 target genes.

Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.

Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.

Sex- and age-dependent neurovascular abnormalities linked to neuroinflammation lead to exacerbated post-ischemic brain injury in Marfan syndrome mice.

KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis.

Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.

Aicardi syndrome: Clinical spectrum of a rare disorder.

COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.

Reversible Splenial Lesion Syndrome Induced by Paracetamol and Lithium: A Report of Two Cases and Literature Review.

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks.

A Case Report of a Boy With Clinically Mild Encephalopathy and a Reversible Splenial Lesion Associated With Severe Acute Respiratory Syndrome-Coronavirus 2 Infection.

Brain Abnormalities in Prenatally Diagnosed Rubinstein-Taybi Syndrome.

Adaptive Functioning Development in Infants With Agenesis of the Corpus Callosum.

An 18-month-old girl with Vici syndrome: A case report study.

Cytotoxic Lesions of the Corpus Callosum (CLOCCs) in a Patient with Epstein-Barr Infection: A Case Report and Literature Review.

Congenital Oropouche in Humans: Clinical Characterization of a Possible New Teratogenic Syndrome.

Along-tract white matter abnormalities and their clinical associations in recent-onset and chronic schizophrenia.

Prenatal diagnosis of a de novo 17q25.3 microdeletion encompassing RAC3 and CSNK1D in a fetus associated with partial agenesis of the corpus callosum, small brain volume, micrognathia and total anomalous pulmonary venous return.

Detailed Analysis of Fetal Malformations of the Supratentorial Structures of the Brain in High-Risk Pregnancies at 12-14 Gestational Weeks by Transvaginal 3D Ultrasound Examination.

Paroxysmal sympathetic hyperactivity and refractory hypotension in Guillain-Barré syndrome with autoimmune encephalitis: a case report and literature review.

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

The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.

A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.

Novel Reassortants of Oropouche Virus (OROV) Are Causing Maternal-Fetal Infection During Pregnancy, Stillbirth, Congenital Microcephaly and Malformation Syndromes.

Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

[Prenatal diagnosis and genetic counseling of 20 fetuses with 15q11.2 BP1-BP2 microdeletion syndrome].

Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

White matter organization abnormalities in adults with 47,XXX: A 7 Tesla MRI study.

Brain MRI in infants exposed to the Zika virus, with one-year follow-up: expanding the phenotype.

Exploring the diverse imaging spectrum of Septo-optic dysplasia: A case series.

BILATERAL MACULAR DYSPLASIA IN COFFIN-SIRIS SYNDROME.

Microstructural analysis does not support altered interhemispheric wiring of the human anterior commissure in corpus callosum dysgenesis.

Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss-Kruszka syndrome.

Adaptive behavior in primary agenesis of the corpus callosum.

Genitopatellar Syndrome With a Novel Variant in the KAT6B Gene: Supporting Spectrum Delineation.

Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra-Cerebral Malformations.

An update on autophagy disorders.

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.

Asymmetry in Atypical Parkinsonian Syndromes-A Review.

Pituitary Gland Duplication Syndrome: An International Imaging Analysis.

Autophagy controls neuronal differentiation by regulating the WNT-DVL signaling pathway.

Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients.

Prenatal Sonographic Features of Rubinstein-Taybi Syndrome-A Small Case Series of a Rare Syndrome.

Aberrant connectivity of the lateralized readiness system in non-syndromic congenital mirror movements.

Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Imagawa-Matsumoto Syndrome: The First Case From Turkey.

A rare case report: The value of fetal MRI to detect diprosopus twins.

Agenesis of Corpus Callosum, Malformations of Cortical Development, Duodenal Atresia and Fetal Growth Restriction: Prenatal Markers for Zhu-Tokita-Takenouchi-Kim Syndrome.

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

Loss of Zmiz1 in mice leads to impaired cortical development and autistic-like behaviors.

Impact of pathogenic variants of the Ras-mitogen-activated protein kinase pathway on major white matter tracts in the human brain.

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature.

A nationwide survey of Vici syndrome in Japan.

Shapiro's syndrome: episodic hypothermic hyperhidrosis.

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

Patent Ductus Arteriosus in Association With Agenesis of Corpus Callosum: Syndromic Links, Difficult Airway Challenges, and Pediatric Anesthesia Management.

Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up.

Spontaneous intracranial hypotension in a patient without corpus callosum: A case report.

Ultra-High Contrast MRI: The Whiteout Sign Shown with Divided Subtracted Inversion Recovery (dSIR) Sequences in Post-Insult Leukoencephalopathy Syndromes (PILS).

The postnatal injection of AAV9-FOXG1 rescues corpus callosum agenesis and other brain deficits in the mouse model of FOXG1 syndrome.

Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency.

Brain perfusion SPECT in dementia: what radiologists should know.

Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS).

Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review.

Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.

Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.

Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities.

Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene-A Case Series.

White matter alterations predict outcomes of comprehensive behavioral intervention for tics in children with Tourette syndrome: A diffusion MRI study.

Cryo-EM structures elucidate the multiligand receptor nature of megalin.

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.

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

Beckwith-Wiedemann Syndrome With Severe Relapsing Hypoglycemia After the Neonatal Period: A Case Report and a Literature Review.

[Genetic analysis of a fetus with Pitt-Hopkins syndrome due to a 18q21.2q21.31 microdeletion].

Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.

Pediatric Cochlear Implants in the Chudley-McCullough Syndrome: A Report of Two Cases.

Fetus with multiple congenital anomaly syndrome caused by novel variant in ATP1A2.

De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome.

Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus.

A female case of L1 syndrome that may have developed due to skewed X inactivation.

Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.

A selective defect in the glial wedge as part of the neuroepithelium disruption in hydrocephalus development in the mouse hyh model is associated with complete corpus callosum dysgenesis.

Novel characterization of CASK variant c.1963 A>G (p.Asn655Asp) through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report.

High incidence of cerebrovascular lesions on magnetic resonance imaging in pediatric COVID-19 during omicron outbreak - A retrospective case series.

A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum.

PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.

Septo-Optic Dysplasia: A Case Series of 33 Patients.

Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.

Case report: Twice-daily tolvaptan dosing regimen in a challenging case of hyponatremia due to SIAD.

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

Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Microstructural white matter abnormalities in overactive bladder syndrome evaluation with diffusion kurtosis imaging tract-based spatial statistics analysis.

A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review.

Perinatal clinical course of Vici syndrome associated with novel EPG5 variants: unique cardiac changes and difficulty with foetal diagnosis.

Iatrogenic Shapiro syndrome: a case report.

Congenital Zika Virus Infection Impairs Corpus Callosum Development.

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

A novel NONO nonsense variant in a fetus with renal abnormalities.

Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate.

Spectral-based thickness profiling of the corpus callosum enhances anomaly detection in fetal alcohol spectrum disorders.

Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.

Correlation of Diffusion Tensor Tractography with Restless Legs Syndrome Severity.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Prenatal Diagnosis of Primrose Syndrome.

Teaching Neuroimage - Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae.

An Infant With Primrose Syndrome: A Case Report.

Prenatal Magnetic Resonance Imaging helps Discover Cerebellar Dysplasia or Malformations in Foetuses.

Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.

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

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.

Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.

Analysis of CT and MRI Manifestations of Joubert Syndrome.

RIT1 regulation of CNS lipids RIT1 deficiency Alters cerebral lipid metabolism and reduces white matter tract oligodendrocytes and conduction velocities.

A novel syndrome associated with prenatal fentanyl exposure.

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.

MAST1-related mega-corpus-callosum syndrome with central hypogonadism.

Incidence of Hearing Loss in Corpus Callosum Agenesis.

Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review.

Modulation of Plasmatic Matrix Metalloprotease 9: A Promising New Tool for Understanding the Variable Clinical Responses of Patients with Cystic Fibrosis to Cystic Fibrosis Transmembrane Conductance Regulator Modulators.

Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.