Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Expanding the clinical and immunological phenotypes of COPB1 deficiency.

Expanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type I.

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

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.

Expanding the neurological spectrum of HTLV-1 beyond HAM/TSP: a contemporary perspective.

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

The Age of Definitive Fusion Surgery for Early Onset Scoliosis Has Remained Constant Over the Past 2 Decades.

Webb-Dattani syndrome in a 17-year-old girl.

Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.

USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review.

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

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

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

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

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

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

Child Neurology: Clinical and Imaging Findings in a Child With DHX37 Gene Variant: A Ribosomopathy Masquerading as Cerebral Palsy.

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

Post-acute Corticospinal and Spinal Tractopathy after Coronavirus Disease 2019: A Novel Post-infectious Neurological Syndrome?

Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures.

Uncommon Allies: Van der Knaap Syndrome and Focal Segmental Glomerulosclerosis.

Expanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt.

Genetic Deletion of Sarm1 in Mouse Models of Three Neurological Diseases.

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

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.

Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family.

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.

Subacute Combined Degeneration Presenting With Prominent Autonomic Symptoms 12 Years After Total Gastrectomy: A Case Report.

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

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

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

New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.

The Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.

Arginase 1 deficiency: a treatable form of spastic paraplegia.

Heterozygous deletion of 10q24.31-q24.33- a new syndrome associated with multiple congenital anomalies: case report and literature review.

Delayed Diagnosis of Aicardi-Goutières Syndrome in a 10-Year-Old Female Child With TREX1 Mutation: A Case Report.

A Case Report of a Child With Rare Phosphatidylinositol Glycan Anchor Biosynthesis Class N (PIGN) Gene Mutation With Hypotonia, Epilepsy, and Global Developmental Delay.

De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report.

[Combined oxidative phosphorylation deficiency type 7 caused by C12orf65 gene mutations: a case report and literature review].

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

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series.

[A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs].

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

Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.

The phenotypic spectrum of PTCD3 deficiency.

Restoring Function in Pediatric Neurodegeneration: The Impact of Radio Electric Asymmetric Conveyor Neuroregenerative Treatment in a Child With Canavan Syndrome.

Cervical myelopathy mistaken for complex regional pain syndrome: A case report.

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

Systemic complications of Aicardi Goutières syndrome using real-world data.

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

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

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

Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.

A case report of spastic diplegic cerebral palsy in a late preterm child with hypoplastic left heart syndrome.

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants.

A Case of Spastic Quadriplegia Remaining after Multiple Traumatic Injuries Complicated by Sepsis and Reversible Posterior Leukoencephalopathy Syndrome, as well as Delayed Multifocal Microbleeds.

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

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

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

A Clinical Neurological Approach to the Child With Adenosine Deaminase Deficiency.

A Classic Cornelia De Lange Syndrome Type 5 (CdLS5) With a De Novo Missense Variation of p.Gly210Arg in the HDAC8 Gene With a Novel Phenotype of Generalized Dystonia.

Autosomal Recessive Spastic Paraplegia and Psychomotor Retardation With or Without Seizures: A Case Report From Saudi Arabia.

Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation.

[Clinical and genetic analysis of a child with West syndrome due to a de novo variant of NEXMIF gene].

A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.

Recognition, Description, and Variability of Spasticity in Individuals With Multiple Sclerosis and Potential Barriers to Clinician-Patient Dialogue: Results From SEEN-MSS, a Large-Scale, Self-Reported Survey.

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.

Nucleotide metabolism, leukodystrophies, and CNS pathology.

A treatable inborn error of metabolism presenting in the sixth decade.

Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition.

Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.

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

Postural control deficits due to bilateral pyramidal tract lesions exemplified by hereditary spastic paraplegia (HSP) originate from increased feedback time delay and reduced long-term error corrections.

Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.

De Sanctis-Cacchione Syndrome with Subdural Effusion: A Rare Case from India with Review of Literature.

GRM7-related disorder: five additional patients from three independent families and review of the literature.

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

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.

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

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.

A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report.

Bilateral globus pallidus interna deep brain stimulation in the treatment of mixed cerebral palsy in ataxia with dyskinesia: a case report.

Frontal lobe motor syndromes.

TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis.

The clinical aspects of septo-optic dysplasia: A narrative review with illustrative case report.

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

Incomplete Anterior Spinal Artery Syndrome Responsive to Intrathecal Baclofen.

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.

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

Epileptic encephalopathy and amelogenesis imperfecta: What about KohlschüttereTönz syndrome? Case report and literature review.

Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.

Arginase deficiency-An unheralded cause of developmental epileptic encephalopathy.

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.

Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene.

Early versus late injections of Botulinumtoxin type A in post-stroke spastic movement disorder: A literature review.

Aicardi-Goutières syndrome type 7 in a Chinese child: A case report.

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

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

Neurointerface with oscillator motifs for inhibitory effect over antagonist muscles.

Quantitative measures of motor development in Angelman syndrome.

Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.

MECP2 duplication syndrome initially misdiagnosed as cerebral palsy: a case report.

Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay.

YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review.

Phenotypic Pleiotropy in Arginase Deficiency: A Single Center Cohort.

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

Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum.

Moyamoya syndrome secondary to mitochondrial disease in a patient with partial trisomy 13q14 and 13q31: A novel case report and literature review.

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

Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome.

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

Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.

Acral collodion membrane associated with ichthyosis due to a heterozygous pathogenic variant of ELOVL4 gene.

Pre- and Postnatal Characterization of Autosomal Recessive KIDINS220-Associated Ventriculomegaly.

Would Zika virus Infection in Pregnancy Be a Sentence of Poor Neurological Prognosis for Exposed Children? Neurodevelopmental Outcomes in a Cohort from Brazilian Amazon.

Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia.

Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy.

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

Startle Disease: An Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects.

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

Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis.

Bardet-Biedl Syndrome: A Rare Case From Ophthalmology Perspective.

Kjellin's syndrome: Spastic paraplegia and multifocal pattern dystrophy simulating fundus flavimaculatus.

Phenotypic continuum of NFU1-related disorders.

Milder presentation of autosomal dominant fatty acyl CoA reductase 1-related syndrome: Report of the first Middle Eastern patient and review of the literature.

An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population.

Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants.

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.

PSMC1 variant causes a novel neurological syndrome.

Novel EPG5 Mutation Associated with Vici Syndrome Gene.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

A Dorsal Epidural Herniated Disc Fragment Initially Presenting as Guillain-Barré Syndrome.

A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.

Mutations in TAF8 cause a neurodegenerative disorder.

One Molecule for Mental Nourishment and More: Glucose Transporter Type 1-Biology and Deficiency Syndrome.

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.

NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature.

Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature.

PNPLA6/NTE, an Evolutionary Conserved Phospholipase Linked to a Group of Complex Human Diseases.

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

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.

Gait as a quantitative translational outcome measure in Angelman syndrome.

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.

Molybdenum cofactor deficiency: A natural history.

Possible EIF2AK2-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.

Rhomboencephalosynapsis: Review of the Literature.

Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A.

[Clinical phenotype and genetic analysis of MECP2 duplication syndrome].

Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.

Congenital Eyelid Imbrication and Floppy Eyelid Syndrome in a Patient With Cat Eye Syndrome.

Megaloblastic wobbliness: A reversible neurological condition.

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.

Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.

Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome.

Electroclinical Features in MECP2 Duplication Syndrome: Pediatric Case Series.

Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Megalencephaly Polymicrogyria Polydactyly Hydrocephalus (MPPH): A Case Report and Review of Literature.

Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report.

Incidental Finding of MEGDEL Syndrome Based on Neuroimaging: Case Report.

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.

Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.

Management of delayed Sprengel malformation with intracanalar compressive omovertebral bone in a developing country's neurosurgery unit.

Aicardi syndrome in a 7-month-old girl with tonic seizures and skeletal defects: A case report.

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

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA).

Phelan McDermid Syndrome: Multiple Sclerosis as a Rare but Treatable Cause for Regression-A Case Report.

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.

Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.

EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease.

Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS).

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Complications and Sequelae in Patients With Congenital Microcephaly Associated With Zika Virus Infection: Two-Year Follow-Up.

Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Case report.

Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.

A Case of Miyazaki Syndrome Caused by Arachnoid Cyst-Peritoneal Shunt.

Defining the Expanding Clinical Spectrum of Pediatric-Onset Stiff Person Syndrome.

Hyperacute extensive spinal cord infarction and negative spine magnetic resonance imaging: a case report and review of the literature.

A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability.

Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings.