A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.

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

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

Neuroimaging of tic disorders.

Structural brain MRI abnormalities in SCN1A-, SCN2A-, SCN3A-, and SCN8A-related epilepsies: a cohort study.

Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.

Thyrotoxicosis in MCT8 deficiency.

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.

Characterization of 843 children with Zika-related microcephaly in the first three years of life: An individual participant data meta-analysis of 12 cohorts in the Zika Brazilian Cohorts consortium.

Comorbidity of Attention Deficit Hyperactivity Disorder (ADHD) and Chung-Jansen Syndrome: Case Report and Review of Literature.

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios.

A Case Report: Identification of a Pathogenic Microdeletion at Chromosome 21q21.3q22.13 Using Whole-Exome Sequencing and CNV Analysis in a Moroccan Child with Global Developmental Delay.

WDR81 Mutation in Two Siblings: A Case Report and Review of Literature.

Outcomes in West syndrome: Association of genetic and perinatal etiologies with early diagnosis and therapy.

Dandy-Walker Malformation and Optic Nerve Hypoplasia: A Developmental Case Highlighting the Psychiatric Impact of Central Nervous System Malformation.

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

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.

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

EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Novel MCT8 mutation: diagnostic value of T3/T4 ratio.

[Clinical and genetic characteristics analysis of 18 children with infantile epileptic spasms syndrome associated with mitochondrial gene variants].

A Case of Infantile Epileptic Spasms Syndrome with the SPTBN1 Mutation and Review of βII-Spectrin Variants.

Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.

Chlorogenic Acid Alleviates Early-Life GenX Exposure-Induced Neurotoxicity via Decreasing Lipopolysaccharide-Induced Pyroptosis by the Systemic Translocation and Suppressing the PI3K/AKT/NF-κB Pathway.

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Dandy-Walker spectrum with bilateral optic atrophy and seizure disorder: a case report and literature review.

Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD.

Rare 48, XXYY Syndrome with Primary Infertility and Behavioural Disorder: A Case Report.

Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay.

Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review.

Structural insights into brain thyroid hormone transport via MCT8 and OATP1C1.

Hypomyelination Leukodystrophy Type 11 (HLD11) Presenting with Diabetes: A Case Report and Literature Review.

A novel NR2F1-associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome.

Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.

A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.

White matter trajectories in Down syndrome and Alzheimer's disease: Insights from diffusion tensor-based morphometry.

Dyke-Davidoff-Masson syndrome: Adult female patient with refractory epilepsy and global cognitive decline.

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.

Gene replacement therapy to restore polyamine metabolism in a Snyder-Robinson syndrome mouse model.

Understanding speech and language in KIF1A-associated neurological disorder.

A Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation.

Molecular mechanism of thyroxine transport by monocarboxylate transporters.

Medial temporal lobe atrophy in Down syndrome along the Alzheimer's disease continuum.

Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo.

Optic atrophy in Lamb-Shaffer syndrome: two case presentations with ophthalmic imaging studies.

Möbius Syndrome With Possible Poland Syndrome Overlap: A Case Report.

Diffuse but Non-homogeneous Brain Atrophy: Identification of Specific Brain Regions and Their Correlation with Clinical Severity in Rett Syndrome.

Allan-Herndon-Dudley Syndrome.

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel case and systematic literature review.

Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish.

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome.

The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian Family.

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

Favorable response to ketogenic diet therapy in a patient with DYNC1H1-related epilepsy.

An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.

Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series.

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

Adverse events of nusinersen: a real-world drug safety surveillance study based on the FDA adverse event reporting system (FAERS) database.

Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.

The correlation of intracranial parenchymal calcium score and the severity of neurological clinical presentation in carbonic anhydrase deficiency type 2.

Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.

Expanding the Phenotype of NRROS -Related SENEBAC Syndrome.

Perspectives in the investigation of Cockayne syndrome group B neurological disease: the utility of patient-derived brain organoid models.

[Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.

Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome.

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.

Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease.

Neurosurgical gene therapy for central nervous system diseases.

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features.

Clinical spectrum of congenital Zika virus infection in Brazil: Update and issues for research development.

Natural history in Malan syndrome: survey of 28 adults and literature review.

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

Conventional magnetic resonance imaging key features for distinguishing pathologically confirmed corticobasal degeneration from its mimics: a retrospective analysis of the J-VAC study.

Mitochondrial regulation of adult hippocampal neurogenesis: Insights into neurological function and neurodevelopmental disorders.

Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.

3,3',5-Triiodothyroacetic Acid Transporters.

Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.

Phenylbutyrate Treatment in a Boy With MCT8 Deficiency: Improvement of Thyroid Function Tests and Possible Hepatotoxicity.

Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.

Exploiting fly models to investigate rare human neurological disorders.

A Novel Case of SCN1A Mutation Presenting as Hyperkinetic Movement Disorder.

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion.

[Natural history of mucopolysaccharidosis type III in a series of Colombian patients].

Glycerol Phenylbutyrate Treatment of 2 Patients With Monocarboxylate Transporter 8 Deficiency.

Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

An Overview of UBTF Neuroregression Syndrome.

Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.

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

Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency.

Neuroinflammation, blood-brain barrier dysfunction, hippocampal atrophy and delayed neurodevelopment: Contributions for a rat model of congenital Zika syndrome.

Child Neurology: Allgrove Syndrome: An Intriguing Etiology of Motor Neuron Disease in Children.

IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.

A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder.

Ocular manifestations in Koolen-de Vries syndrome: an international study.

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation.

Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency.

Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out.

Transcranial magnetic stimulation neurophysiology in patients with non-Alzheimer's neurodegenerative diseases: A systematic review and meta-analysis.

Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency.

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

Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1S858R Schinzel Giedion Syndrome mice.

Combined Oxidative Phosphorylation Deficiency Type-13 with Perinatal Presentation: A Case Report.

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

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.

Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum.

MODY5 and Serous Ovarian Carcinoma in 17q12 Recurrent Deletion Syndrome.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.

Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study.

The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors.

SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome.

Simple Evaluation of Thyroid Function Leading to the Diagnosis of Allan-Herndon-Dudley Syndrome, a Rare Neurodevelopmental Disorder.

In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity.

Long-term follow-up of patients with extensive segmental infantile hemangioma of the cervical or facial region: A French single-center prospective study.

Late-Onset Pyloric Stenosis and Intussusception With Final Diagnosis of Food Proteins' Hypersensitivity in Schaaf-Yang Syndrome: A Case Report.

Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases.

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.

Maternal SARS-CoV-2, Placental Changes and Brain Injury in 2 Neonates.

[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).

Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.

Adult-onset epilepsy and hippocampal pathology in a California sea lion (Zalophus californianus): A case study of suspected in utero exposure to domoic acid.

Correlations between cerebrospinal fluid homovanillic acid and dopamine transporter SPECT in degenerative parkinsonian syndromes.

Case of Pierson syndrome presented with hyphema,vitrous haemorrhage and subsequent neovascular glaucoma.

Maternal Administration of the CNS-Selective Sobetirome Prodrug Sob-AM2 Exerts Thyromimetic Effects in Murine MCT8-Deficient Fetuses.

A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX.

Psychiatric Diagnoses and Medications in Wolfram Syndrome.

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1.

Neuroprotective Properties of Cardoon Leaves Extracts against Neurodevelopmental Deficits in an In Vitro Model of Rett Syndrome Depend on the Extraction Method and Harvest Time.

Prospective Study of Gray Matter Atrophy Following Pediatric Mild Traumatic Brain Injury.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Feasibility and usefulness of brain imaging in catatonia.

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.

A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review.

Unfolding of Novel Independent Missense Mutations in VAMP2 and AGRN and Their Collective Role in Global Developmental Delay: A Case Report.

MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.

Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum.

A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis.

Novel EPG5 Mutation Associated with Vici Syndrome Gene.

Studies of mutations of assembly factor Hit1 in budding yeast suggest translation defects as the molecular basis for PEHO syndrome.

Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies.

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy.

A review of the clinical spectrum of BRAT1 disorders and case of developmental and epileptic encephalopathy surviving into adulthood.

De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum.

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.

Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review.

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.

Impact of a 12-month multifaceted neurological physiotherapy intervention on gross motor function in women with Rett syndrome.

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Multimodal Neuroimaging in Rett Syndrome With MECP2 Mutation.

Identification of Region-Specific Cytoskeletal and Molecular Alterations in Astrocytes of Mecp2 Deficient Animals.

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.

Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (HABC) Due to UFM1 Mutation in Roma Patients - Severe Early Encephalopathy with Stridor and Severe Hearing and Visual Impairment. A Single Center Experience.

Sodium voltage-gated channel alpha subunit 9 mutation in epilepsy.

Structural and Functional Aspects of the Neurodevelopmental Gene NR2F1: From Animal Models to Human Pathology.

[Variability of the clinical expression of KCNB1 encephalopathy].

Clinical and Brain Imaging Findings in a Child with Vitamin B12 Deficiency.

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.

Cockayne syndrome type: a very rare association with hemorrhagic stroke.

Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome.

Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.

Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome.

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report.

An 88.8-kb Novel Deletion of 19q13.2 Encompassing the ATP1A3 Gene Detected by Array CGH in a Patient with Delayed Psychomotor Development, Generalized Hypotonia and Macrocephaly.

Antisense Oligonucleotide Therapy for Neurodevelopmental Disorders.

Juvenile Huntington's Disease and Other PolyQ Diseases, Update on Neurodevelopmental Character and Comparative Bioinformatic Review of Transcriptomic and Proteomic Data.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.