Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome.

Aicardi-Goutières Syndrome: Insights from a Middle Eastern Case Series.

Clinical and Therapeutic Strategies for West Syndrome in Low-Resource Settings: A 10-Year Experience From Cameroon.

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

Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.

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

Infantile Epsilon-Sarcoglycan (SGCE) Myoclonus-Dystonia: Diagnostic Pitfalls and Poor Response to Pharmacologic Treatment.

IESS-FusionNet: Physiologically Inspired EEG-EMG Fusion with Linear Recurrent Attention for Infantile Epileptic Spasms Syndrome Detection.

A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.

A novel variant in SIAH1 associated with autosomal dominant Buratti-Harel syndrome.

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

Etiology of Infantile Epileptic Spasms Syndrome and Clinical Response With Vigabatrin as the First Treatment.

The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis.

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

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

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

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

Infantile-Onset Unverricht-Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family History.

Cholinergic modulation of hippocampal CA1 pyramidal cell excitability in ArxGCG+7 mice.

Pseudoparalysis in Infantile Vitamin B12 Deficiency.

Genetic Etiology of Infantile Spasms in Peruvian Children: A Multicenter Study.

Prevalence and incidence of infantile epileptic spasms syndrome in India: A systematic review and meta-analysis.

Long-term administration of EQU-001 (ivermectin) suppresses spasms in a rat model of infantile epileptic spasms syndrome.

Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study.

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

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

Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti-Harel Syndrome.

Recurrent fever-associated acute liver failure and cranial dysmorphism in children caused by RINT1 gene mutations: a rare case report.

Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.

One Size Does Not Fit All: Novel Individualized Use of Dexamethasone in Infantile Epileptic Spasms Syndrome.

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

Neuro-developmental outcomes in infants with vitamin B12-deficiency and neurologic features.

Secondary Adrenal Insufficiency and Iatrogenic Cushing's Syndrome in a 13-Year-Old Male With Vogt-Koyanagi-Harada Disease: A Case Report.

Novel PAK1 variants related to a variable phenotypic spectrum ranging from mild developmental delay to infantile epileptic spasms syndrome.

Long-Term Seizure and Neurodevelopmental Outcomes of Three Children with Developmental Delay, Epilepsy, and Neonatal Diabetes (DEND) Syndrome after Early Initiation of Sulphonylurea.

Vitamin B12 Deficiency in Children.

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.

Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome.

Phenotypic variability in cystinosis: Lessons from an atypical case.

From breast to bite: Nutritional management in infantile food protein-induced enterocolitis syndrome (FPIES).

The molecular basis of KCNH1-related epileptic encephalopathy and the challenge of developing targeted therapeutics.

Consanguinity and treatment strategy determine seizure outcome and mortality in infantile epileptic spasms syndrome in Azerbaijan.

Prenatal betamethasone-postnatal N-methyl-D-aspartic acid model of spasms: Update on mechanisms and treatments.

Distinct T Cell Dysregulation Reflects Disease Severity and Progression in Infantile Epileptic Spasms Syndrome and Lennox-Gastaut Syndrome.

Safety and efficacy of Igk-TATk-CDKL5 gene therapy in mosaic CDKL5 deficiency.

Restrictive strabismus caused by infantile myositis masquerading as Duane retraction syndrome.

A survey of adult caregivers of people with developmental and epileptic encephalopathies: A long-term care planning needs assessment.

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

Rapid Electroclinical Evolution in HECW2-Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission.

Imaging Findings of Vigabatrin-Associated Neurotoxicity in a 12-Month-Old With Infantile Epileptic Spasm Syndrome.

Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions in a Child With Inherited Co-deletion of 16p11.2 and 16p12.2: A Case Report and Literature Review.

Antiseizure medications in CDKL5 encephalopathy- systematic review.

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

Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.

A zebrafish model unravels the role of PHF21A in neurodevelopment and epilepsy.

Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3 : A Case Report and a Brief Review of the Literature.

Treatment of PDGFRB -Related Penttinen Syndrome With Imatinib in a Young Child.

Beyond Myoclonus-Seizures, Epilepsy Syndromes and Atypical Electroencephalographic (EEG) Findings in Children With Subacute Sclerosing Panencephalitis.

HECW2 Gene Mutation: A Rare Cause of West Syndrome: A Case Report.

Brain tumours as an unrecognized etiology of infantile epileptic spasms syndrome (IESS): The role of resective epilepsy surgery.

Challenges in the Diagnosis of Infantile Enterocolitis and Rare Auto-Inflammatory Syndromes: A Case Report and Literature Review.

Investigating the Association Between Infantile Colic and Parental Migraine.

Epileptic Spasms in Septo-Optic-Pituitary Dysplasia: A Retrospective Cohort Study.

A novel truncated mutation in folate receptor α (FRα) affecting its glycosylation and affinity for folate in a consanguineous family with progressive encephalopathy: follow up and treatment improvement.

Disrupted Motor Neuron and Neuromuscular Junction Development in an Albino Mice Model of Infantile Nystagmus.

Cleft Lip Appearance Secondary to Ulcerating Hemangioma.

Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol.

Infantile epileptic spasm syndrome: predictors of short- and long-term outcomes.

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

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

Detection of epileptic spasms using foundational AI and smartphone videos.

Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China.

Two unique cases of eosinophilic granulomatosis with polyangiitis in childhood treated with anti-interleukin-5 therapy: infantile-onset and submandibular salivary gland involvement.

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

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

Deletion of RAI1 noncoding exons 1-2 causes Smith-Magenis syndrome.

Understanding speech and language in KIF1A-associated neurological disorder.

New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.

Aicardi syndrome: Clinical spectrum of a rare disorder.

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.

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.

The phenotypic spectrum of YWHAG-related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy.

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Epilepsy associated with chromosomal disorders.

Dental Developmental Anomalies in Facial Segmental Hemangiomas Not Related to PHACES.

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

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome.

MBOAT7 encephalopathy: Characterizing the neurology and epileptology.

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.

Infantile Pure Red Cell Aplasia Secondary to Deficiency of Adenosine Deaminase2 (DADA2) Syndrome-Time to Think Beyond Diamond Blackfan Anemia.

Genetic Epilepsies With Onset in Infancy and Toddlerhood: A Prospective Single-Center Study in India.

A Novel KMT2E Splicing Variant as a Cause of O'Donnell-Luria-Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype.

Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.

Neonatal-Onset Opsoclonus-Myoclonus-Ataxia-Like Syndrome Caused by De Novo FRMD5 Variant Responsive to IV Steroid Pulse Therapy: Case Report.

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

Evaluating the efficacy of very high-dose oral prednisolone in West syndrome: in Uttar Pradesh, India, a resource-limited setting.

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

Evaluating the effectiveness of medical therapy in infantile epileptic spasms syndrome due to surgically-remediable lesions.

A Study of Body Composition in Children Suffering From Infantile Vitamin B12 Deficiency.

Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa.

[Typical pediatric hemolytic uremic syndrome in Algeria : prognostic factors].

Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.

Outcomes following resective and disconnective strategies in the treatment of epileptic spasms: a systematic review of the literature and individual patient data meta-analysis.

Genetics of Prader-Willi and Angelman syndromes: 2024 update.

Reversible Perfusion Changes during Acute Attacks in Glucose Transporter Type 1 Deficiency Syndrome: A Pediatric Case Series.

No single treatment modality exhibits clear superiority for infantile spasms syndrome: insights from a retrospective cohort study.

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

Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy.

[Serotonin syndrome secondary to the association of paroxetine and amitriptyline: a case report].

Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.

A Rare Co-occurrence of Williams Syndrome and 𝘛𝘕𝘒2 Gene-Related Epilepsy.

Italian Guidelines for the diagnosis and treatment of Fetal Alcohol Spectrum Disorders: clinical hallmarks.

Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency.

Longitudinal, multidimensional, observational study of 15 patients with CDKL5 Deficiency Disorder.

WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report.

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.

Ultrasound for infantile midgut malrotation: Techniques, pearls, and pitfalls.

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

Rare CCND2 (p.Thr280Ile) Variant Associated With Infantile Spasms in a Patient With Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.

Adapting Action Recognition Neural Networks for Automated Infantile Spasm Detection.

Vitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT2 gene: a case report.

A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants.

Factors influencing efficacy and relapse of adrenocorticotropic hormone in infantile epileptic spasms syndrome.

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

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.

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

A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly.

New evidence supports RYR3 as a candidate gene for developmental and epileptic encephalopathy.

Role of pediatric dentist in West syndrome rehabilitation: A case report.

Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.

Salivary Gland Anlage Tumor: A Case Report on Abnormal Breathing Found in a Late-Preterm Infant.

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.

Childhood gratification syndrome: Demystifying the clinical conundrum with a narrative literature review of the past 5 decades.

Long-term effects of luteolin in a mouse model of nephropathic cystinosis.

Natural history of deoxyguanosine kinase deficiency.

Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database.

[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy].

Comprehensive scoping review of fenfluramine's role in managing generalized tonic-clonic seizures in developmental and epileptic encephalopathies.

Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation.

A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.

Autosomal Recessive Infantile Hyaline Fibromatosis Identified Using Artificial Intelligence-Assisted Rapid Whole Genome Sequencing: A Rare, Multisystemic, Hereditary Disorder.

Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene.

Nutritional management of the child with chronic kidney disease and on dialysis.

The anesthetic management of a child with ohtahara syndrome and severe stridor: a case report.

MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.

Two siblings with acute necrotizing encephalopathy associated with variants of LARS1.

Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.

CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.

Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1.

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

Identification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome.

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

Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes.

Case Report: Efficacy, safety, and favorable long-term outcome of early treatment with IL-1 inhibitors in a patient with chronic infantile neurological cutaneous articular (CINCA) syndrome caused by NLRP3 mosaicism.

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.

Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature.

Infantile tremor syndrome with global developmental delay and microcephaly in a 16-month-old male: a case report.

Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.

Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome.

Genetic exploration of Dravet syndrome: two case report.

Gut microbiota profile in CDKL5 deficiency disorder patients.

A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family.

Novel copy number variations and phenotypes of infantile epileptic spasms syndrome.

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

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

Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes.

Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses.

Predictors of medical intractability in children with epilepsy onset during the first two years of life, excluding infantile epileptic spasm syndrome.

Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome.

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

Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.

Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review.

A Potential Mechanism of Neurological Impairment in Children With Infantile Spasm: Based on Microanatomic Structure Analysis Employing Voxel-Based Morphometry and Surface-Based Morphometry.

Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome.

Timing the clinical onset of epileptic spasms in infantile epileptic spasms syndrome: A tertiary health center's experience.

ATN1-related infantile developmental and epileptic encephalopathy responding to Ketogenic diet.

The Impact of Integration of a Genetic Clinic Into a Pediatric Cardiac Unit.

NT-proBNP course during MIS-C post-COVID-19: an observational study.

Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.

Diagnosis, epilepsy treatment and supports for neurodevelopment in children with Dravet Syndrome: Caregiver reported experiences and needs.

Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.

Does the absence or presence of sleep spindles on EEG have prognostic value for cognitive outcome in children with infantile epileptic spasms syndrome? A systematic literature review.

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

Approach to Congenital Diarrhea and Enteropathies (CODEs).

Late infantile epileptic encephalopathy: A distinct developmental and epileptic encephalopathy syndrome.

Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction.

Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome.

Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.

Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations.

Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty.

Delays to care in infantile epileptic spasms syndrome: Racial and ethnic inequities.

Case report: De novo variant of SETD1A causes infantile epileptic spasms syndrome.