At the extreme limits of L-DOPA therapy: probable dopamine dysregulation and psychiatric complications in Parkinson's disease.

Association of Bassoon (BSN) Gene Mutations With Gait and Motor Impairments in Parkinson's Disease.

Maternal Child-Directed Speech Toward Children With Infantile Spasm or West Syndrome.

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.

Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant.

Surveying immune and inflammatory alterations in periodontitis among individuals with Down syndrome: A preliminary cross-sectional study.

Expanding the clinical and immunological phenotypes of COPB1 deficiency.

Developmental and Epileptic Encephalopathy due to Cyclin-Dependent Kinase-Like 5 Deficiency: A Single-Center Experience Across Sex Differences.

Bardet-Biedl syndrome presenting with early-onset infantile obesity.

Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.

The impact of congenital heart disease on the timing of Alzheimer's disease in Down syndrome.

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.

A Case Report of PLXNA1-Related Dworschak-Punetha Neurodevelopmental Disorder With Pachygyria and Polymicrogyria.

Biallelic FOXRED1 mutations cause infantile mitochondrial encephalopathy with complex I disassembly and basal ganglia degeneration.

Biogenesis and function of circular RNAs and their implications in the Down syndrome brain.

Late onset Lennox-Gastaut syndrome.

Development and initial validation of the Communication Inventory Disability - Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder.

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.

Disease-Modifying Treatment Options in Very Early Onset Multiple Sclerosis-What Choices Are There for Onset Under 5 Years of Age? A Systematic Review.

VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.

[Epileptic encephalopathy associated with a mutation in the KCNT1 gene].

Targeting dysregulated CB1 receptors in a Down syndrome mouse model improves neurological outcomes.

Imaging and plasma biomarkers for pathological accumulation in Down syndrome.

KCNT1 (Slack/Slo2.2) and KCNT2 (Slick/Slo2.1) Dysregulation in Intellectual Disability and Behavioral Phenotypes: A Systematic Review.

Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.

A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.

Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.

Dravet syndrome diagnosed in adults.

Genetic complexity in pediatric onset epilepsy-movement disorder syndromes: Insights from a cohort of 97 subjects.

Apathy and cognitive decline as the first presentation of SLE-associated vascular dementia: a case report.

Genotype-Phenotype Correlation and Psychiatric Manifestations in a Case of Phelan-McDermid Syndrome With 22q13.33 Deletion.

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies.

The Emerging Epidemic of Early-Onset Cancer: Global Patterns, Biological Complexity, and Urgent Calls for Action.

Diagnostic Challenges in Fahr's Disease: A Rare Case of Extensive Basal Ganglia Calcifications.

Kohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review.

Longitudinal analysis of age-dependent phenotypes in hemizygous male and heterozygous female Cdkl5 mutant mice.

Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.

Development of disease-specific growth charts for Argentine Prader-Willi syndrome without growth hormone treatment.

FMR1 Methylation Pattern and Repeat Expansion Screening in a Cohort of Boys with Autism Spectrum Disorders: Correlation of Genetic Findings with Clinical Presentations.

Challenges in the management of epilepsy associated with posterior gliosis secondary to perinatal brain injury.

CDKL5 regulates the initiation of retrograde axonal transport through CLIP170-dynactin complex formation.

Clinical insights into dental care for siblings with Jamuar syndrome: a rare genetic dual case report.

Mapping the global burden of early-onset Parkinson's disease: socioeconomic and regional inequalities from the Global Burden of Disease Study 2021.

Telomere Biology, Erosion, and Age-Related Conditions: Insights from Down Syndrome and Other Telomere-Associated Disorders.

TUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures.

AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation.

Neuroendocrinology and the Genetics of Obesity.

A rare case of Dyke-Davidoff-Masson syndrome with concurrent metabolic syndrome.

VPS16-Associated Dystonia: A Cohort-Based Clinical, Imaging and Genetic Profile.

Unraveling the Genomic Architecture of Supernumerary (Iso-)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature-Based Study.

Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex.

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.

Epilepsy phenotype and developmental outcome in girls with mosaicism in X-linked neurodevelopmental disorders.

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

The genetic and phenotypic spectrum of GABRB1-related disorders.

Oxidative stress characterizes the dysfunction of thermogenic adipose tissue in a mouse model of down syndrome.

Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.

Exploring neurodevelopment in CDKL5 deficiency disorder: Current insights and future directions.

French protocol for diagnosis and management of type 1 interferonopathies.

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

Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown.

STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational Research.

SLC2A1 variants cause late-onset epilepsy and the genetic-dependent stage feature : For the China Epilepsy Gene 1.0 Project.

The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment.

Gaze behavior in infancy associates with developmental outcome at the age of two years in early-onset epilepsies.

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

Prevalence and Clinical Characteristics of OTOGL-Associated Hearing Loss Identified in a Cohort of 7065 Japanese Patients with Hearing Loss.

The epilepsy-autism phenotype associated with developmental and epileptic encephalopathies: New mechanism-based therapeutic options.

Daily life situations and participation of siblings of children with childhood-onset disabilities: a scoping review.

Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomes.

Total cell N-glycosylation is altered during differentiation of induced pluripotent stem cells to neural stem cells and is disturbed by trisomy 21.

[Access to and Transitions within the Medical Care Process of Persons with Down Syndrome and Dementia: A Qualitative Analysis].

Engineered tRNAs efficiently suppress CDKL5 premature termination codons.

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

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

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.

Recent advances in CYFIP2-associated neurodevelopmental disorders: From human genetics to molecular mechanisms and mouse models.

On the Therapeutic Use of Monoclonal Antibodies Against Amyloid Plaques in Older Adults with Down Syndrome: A Narrative Review and Perspective.

p75NTR Modulation Reduces Oxidative Stress and the Expression of Pro-Inflammatory Mediators in a Cell Model of Rett Syndrome.

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report.

Developmental and Epileptic Encephalopathies: Need for Bridging the Gaps Between Clinical Syndromes and Underlying Genetic Etiologies.

17q12 microdeletion syndrome.

The effects of mosaicism on biological and clinical markers of Alzheimer's disease in adults with Down syndrome.

New Insights Into TRMT10A Syndrome: Case Report and Literature Review.

Cohen syndrome: Can early-onset recurrent infections and hypotonia provide early diagnosis and intervention for intellectual disability?

Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report.

Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation.

Neuronal oscillations in cognition: Down syndrome as a model of mouse to human translation.

Demographic Profile and Clinical Characteristics of Adults with Down Syndrome in North-Eastern Romania.

Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals.

Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report.

Autistic-relevant behavioral phenotypes of a mouse model of cyclin-dependent kinase-like 5 deficiency disorder.

Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.

Network Pharmacology Identifies Intersection Genes of Apigenin and Naringenin in Down Syndrome as Potential Therapeutic Targets.

Dravet-like syndrome with PCDH19 mutations in Taiwan - A multicenter study.

Comparative analysis of cognitive and physical characteristics in late-onset, adult-onset and early-onset multiple sclerosis patients.

Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report.

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.

Case Report: A Case of a Patient with Smith-Magenis Syndrome and Early-Onset Parkinson's Disease.

WONOEP appraisal: Modeling early onset epilepsies.

A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency.

Preclinical studies of gene replacement therapy for CDKL5 deficiency disorder.

Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report.

Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome.

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.

Broadening the scope of multigene panel analysis for adult epilepsy patients.

Radiographic and Tomographic Study of the Cranial Bones in Children with the Idiopathic Type of West Syndrome.

Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder.

Caudal regression in fetus with de novo SMARCA2 pathogenic variant.

Cryo-EM structures reveal tau filaments from Down syndrome adopt Alzheimer's disease fold.

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.

Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic LSS variants.

Establishment of a Biorepository for Down Syndrome: Experience of the Inter-Institutional Multidisciplinary BioBank - BioBIM.

Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children-A Literature Review and Case Report.

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.

Mosaicism-independent mechanisms contribute to Pcdh19-related epilepsy and repetitive behaviors in Xenopus.

ITPR1: The missing gene in miosis-ataxia syndrome?

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.

Neurological Adverse Events Related to Immune Checkpoint Inhibitors: A Practical Review.

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report.

Cannabidiol attenuates seizure susceptibility and behavioural deficits in adult CDKL5R59X knock-in mice.

Myoclonus-Dystonia Plus Syndrome With Early-Onset Multiple Cerebral Cavernous Malformation Type 1 and Growth Hormone Deficiency Associated With Novel 7q21.13-q21.3 Deletion: A Pediatric Case Report.

Rebound activation of 5-HT neurons following SSRI discontinuation.

Gut microbiota profile in CDKL5 deficiency disorder patients.

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).

Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant.

Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.

Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters.

Type 1 early infantile epileptic encephalopathy: A case report and literature review.

Hyperphagia and impulsivity: use of self-administered Dykens' and in-house impulsivity questionnaires to characterize eating behaviors in children with severe and early-onset obesity.

Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

Early-onset obsessive-compulsive disorder: Sociodemographic and clinical characterization of a large outpatient cohort.

Prenatal delivery of a therapeutic antisense oligonucleotide achieves broad biodistribution in the brain and ameliorates Angelman syndrome phenotype in mice.

Down Syndrome Biobank Consortium: A perspective.

Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.

Clinical chorioamnionitis at term: definition, pathogenesis, microbiology, diagnosis, and treatment.

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

Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.

[Use of Gadolinium in Follow-Up MRI of Multiple Sclerosis Patients: Current Recommendations].

Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1.

The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.

Applying the ILAE diagnostic criteria for Lennox-Gastaut syndrome in the real-world setting: A multicenter retrospective cohort study.

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review.

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.

A diagnostic conundrum in Bardet-Biedl syndrome: when genetic diagnosis precedes clinical diagnosis.

Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene.

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

Back pain and disability according to early onset scoliosis etiology in children younger than 10 years.

Cognitive Function in Early Onset Type 1 Diabetes in Children.

A Novel Neuroimaging Phenotype in the X-Linked Intellectual Disability with a Missense Mutation of CNKSR2 Gene.

VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders.

Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity.

Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome.

Early-onset catatonia associated with SHANK3 mutations: looking at the autism spectrum through the prism of psychomotor phenomena.

Neuromyelitis Optica spectrum disorders in Argentina: A hospital-based study.

Electroclinical Features of Epilepsy in Kleefstra Syndrome.

Voluntary Running Improves Behavioral and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.

Characterizing the emergence of amyloid and tau burden in Down syndrome.

Prognostic factors in epilepsy with eyelid myoclonia (Jeavons syndrome).

A case of early-onset Parkinson's disease in a patient with KBG syndrome.

Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.

Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives.

Lysosomal dysfunction in Down syndrome and Alzheimer mouse models is caused by v-ATPase inhibition by Tyr682-phosphorylated APP βCTF.

Timing of Alzheimer's Disease by Intellectual Disability Level in Down Syndrome.

Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review.

Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1-A Case Report.

A rare early-onset neonatal case of Birk-Barel syndrome presenting severe obstructive sleep apnea: a case report.

From neurodevelopment to neurodegeneration: utilizing human stem cell models to gain insight into Down syndrome.

Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report.

Histological Analysis of a Mouse Model of the 22q11.2 Microdeletion Syndrome.

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.

Early-onset brain alterations during postnatal development in a mouse model of CDKL5 deficiency disorder.

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia.

Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature.

Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes.

Consensus recommendations on sleeping problems in Phelan-McDermid syndrome.

MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.

Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway-Mowat syndrome in Iran.

Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.

Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.

Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.

Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.

Cell type characterization of spatiotemporal gene co-expression modules in Down syndrome brain.

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.

A unique presentation of NLRP3-associated autoinflammatory disease: case report.

Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy.

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.

Therapeutics for mitochondrial dysfunction-linked diseases in Down syndrome.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study.

Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review.

A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.

A scoping review of post-diagnostic dementia supports for people with intellectual disability.