Emerging disease-modifying therapies for Angelman syndrome: A comprehensive review for pediatric neurologists.

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

PRPS1 (p.V42L) Mutation in Arts Syndrome Induces Aberrant Neural Stem Cell Development and Neuronal Senescence-Like Phenotype: Rescue by Nicotinamide Mononucleotide Supplementation.

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

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.

Duolingo-induced seizures in GAD65 IgG associated autoimmune epilepsy.

CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder.

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

A novel CLPP variant in a Pakistani family with Perrault syndrome associated with recurrent fevers.

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

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

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation.

A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.

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

Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia.

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

Neurodevelopmental Progression and Functional Outcomes in a Child With Joubert Syndrome: A Case Study.

Motor, cognitive, affective, and communication outcomes in patients with sustained remission of opsoclonus-myoclonus-ataxia syndrome.

Neurological, Neuropsychological, and Social Outcomes in Pediatric Patients Diagnosed With Cerebellar Mutism Syndrome: A Systematic Review.

Repurposing Nitazoxanide to target the expanded r(CGG)n repeat RNA for therapeutic intervention in fragile-X tremor/ataxia syndrome.

The Christianson syndrome protein, sodium hydrogen exchanger isoform 6, is required for fat accumulation.

Novel neuropathological observations in an adult with Dravet syndrome.

Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts.

Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.

Expanding the Clinical, Pathological, and Molecular Phenotypes of Tetratricopeptide 19 (TTC19) Gene Mutations: A Case Report from India.

[Development of Therapeutic Agents Targeting Higher-order Structures of Nucleic Acids in Neurodegenerative Diseases].

Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21.

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

[Clinical features and genetic analysis of a child with Christianson syndrome due to variant of SLC9A6 gene].

Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series.

A novel homozygous missense DNAJC3 variant in syndromic juvenile-onset diabetes.

POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report.

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.

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

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.

Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome can Lead to Long-Term Neurological, Neuropsychological, and Cognitive Sequelae Associated with Cerebellar Atrophy.

Expanding the spectrum of ATP8A2 mutations: a new splicing variant and systematic review of CAMRQ4 syndrome.

Cerebellar Ataxia-deafness-narcolepsy (ADCA) syndrome. Description of a variable family phenotype.

Effectiveness and Safety of High-Dose Oral Phenobarbital in Children With Recurrent and Treatment-Refractory Seizures.

Comprehensive cross-sectional and longitudinal comparisons of plasma glial fibrillary acidic protein and neurofilament light across FTD spectrum disorders.

A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review.

Cerebellar Ataxia, Impaired Intellectual Development, and Disequilibrium Syndrome-2: A Case Report.

Pain experience of children with Christianson syndrome.

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.

Poretti-Boltshauser Syndrome: A Report of Two Cases From Bahrain With a Novel Mutation and Literature Review.

Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.

Viral vector-mediated SLC9A6 gene replacement reduces cerebellar dysfunction in the shaker rat model of Christianson syndrome.

Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review.

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

Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.

CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus.

Posterior Cortical Atrophy Due to Alzheimer Disease in a Person With Down Syndrome: A Case Report.

Structural and functional properties of the N- and C-terminal segments of the P4-ATPase phospholipid flippase ATP8A2.

Non-malignant features of cancer predisposition syndromes manifesting in childhood and adolescence: a guide for the general pediatrician.

A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report.

Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

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

Expanding the phenotyping spectrum of Witteveen Kolk syndrome: first report of generalized dystonia and cerebellar ataxia.

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.

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

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

Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.

Impaired hippocampal plasticity associated with loss of recycling endosomal SLC9A6/NHE6 is ameliorated by the TrkB agonist 7,8-dihydroxyflavone.

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report.

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

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.

Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.

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

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.

Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy.

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.

SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.

Role of fragile X messenger ribonucleoprotein 1 in the pathophysiology of brain disorders: a glia perspective.

ITPR1: The missing gene in miosis-ataxia syndrome?

Late cognitive and adaptive outcomes of patients with neuroblastoma-associated opsoclonus-myoclonus-ataxia-syndrome: A report from the Children's Oncology Group.

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

Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome.

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

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Increased Proteolytic Activity of Serratia marcescens Clinical Isolate HU1848 Is Associated with Higher eepR Expression.

Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases.

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

Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.

The effects of response disequilibrium on social media use: A laboratory analogue.

Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias.

Disease-linked mutations in Munc18-1 deplete synaptic Doc2.

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

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings.

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.

The Spectrum of Inherited Gray Matter Degenerative Brain Disorders (DBD) in Children: A Single-Center Study.

Genetic Insights into the causal relationship between cannabis use and diabetic phenotypes: A genetic correlation and Mendelian randomization study.

[Analysis of clinical features and ATRX gene variants in a Chinese pedigree affected with X-linked alpha thalassemia mental retardation (ATR-X) syndrome].

Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

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

Stem cell models of Angelman syndrome.

Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.

Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature.

Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe.

ITPR1-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicism.

Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model.

A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant.

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

Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients.

Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal 1H MRS brain metabolic profiles associated with cognitive function.

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

Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report.

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report.

Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test.

Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome.

[Clinical features and genetic analysis of a child with EAST/SeSAME syndrome].

New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations.

Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders.

Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6: case report and literature review.

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.

Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases.

Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability.

The Gross, Fine, and Oral Motor Functions in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report.

Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome.

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.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients.

Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series.

It is more "unbalanced" than you think.

Linoleic acid improves PIEZO2 dysfunction in a mouse model of Angelman Syndrome.

The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review.

Joubert syndrome: Molecular basis and treatment.

TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.

Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior.

Mouse models of fragile X-related disorders.

Drosophila melanogaster as a Model to Study Fragile X-Associated Disorders.

Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat.

Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature.

Natural History of SURF1 Deficiency: A Retrospective Chart Review.

Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia.

A Case of Gillespie Syndrome With Atypical Presentation.

CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.

A KCNC1-related neurological disorder due to gain of Kv3.1 function.

Diagnostic value of molecular approach in screening for fragile X premutation cases.

CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.

[Analysis of clinical features and EBF3 gene variant in a child with hypotonia, ataxia and developmental delay].

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

Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant.

A Systematic Review of Fragile X-Associated Neuropsychiatric Disorders.

Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.

Teaching NeuroImage: Selectively Bright Inferior Cerebellum in Christianson Syndrome.

Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons.

Association between early and current gastro-intestinal symptoms and co-morbidities in children and adolescents with Angelman syndrome.

Sleep, Respiration and Nocturnal Paroxysmal Events in Joubert Syndrome: A Case Report.

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

Scoliosis in RETT Syndrome: A National Referral Centre Experience.

Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype-Genotype Correlation in 97 Patients with Motor Developmental Delay.

NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?

Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism.

Cerebellum neuropathology and motor skill deficits in fragile X syndrome.

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.

Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications.

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.

Pathophysiology of maple syrup urine disease: Focus on the neurotoxic role of the accumulated branched-chain amino acids and branched-chain α-keto acids.

Gillespie's Syndrome Phenotype in A Patient with a Homozygous Variant of Uncertain Significance in the ITPR1 Gene.

[The cellular functions of G-quadruplex in neurological diseases].

A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome.

A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report.

EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.

Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome.

A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.

Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.

Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation.

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.

Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.

Gait as a quantitative translational outcome measure in Angelman syndrome.

Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2.

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.

Motor and behavioral phenotype of Dravet syndrome in adulthood.

Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.

Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.

The Essential DNA Damage Response Complex MRN Is Dispensable for the Survival and Function of Purkinje Neurons.

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome.

Sex-dependent influence of postweaning environmental enrichment in Angelman syndrome model mice.

Rhomboencephalosynapsis: Review of the Literature.

Epilepsy and Sleep in the ATR-X Syndrome.

Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain.