Disease: Mental retardation epilepsy
- <em>MED23</em> pathogenic variant: genomic-phenotypic analysis
- "When something goes wrong"
- A Complex Presentation: Psychosis in a Patient Diagnosed With Lennox-Gastaut Syndrome
- An Unusual Case of GRIN2A Mutation Presenting as Progressive Limbic Encephalopathy in an Adult
- Assessing Health-Related Quality of Life in Children With Spina Bifida in Lithuania
- Behavioural and neurodevelopmental characteristics of SYNGAP1
- Brain development and bioenergetic changes
- Brivaracetam in patients with and without intellectual disability: Who benefits most and who tolerates it best?
- Broadening the scope of multigene panel analysis for adult epilepsy patients
- Carvedilol increases seizure resistance in a mouse model of SCN8A-derived epilepsy
- Cerebral Palsy Phenotypes in Genetic Epilepsies
- Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report
- Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy
- Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation
- Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China
- Clinical phenotype and genetic analysis of a child with Intellectual developmental disorder and epilepsy due to variant of CLTC gene
- Clinical profile of children and adolescents with autism spectrum disorder in Durban, South Africa
- Complications and Mortality Rate of Vagus Nerve Stimulation for Drug-Resistant Epilepsy
- Context-dependent hyperactivity in <em>syngap1a</em> and <em>syngap1b</em> zebrafish models of SYNGAP1-related disorder
- Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study
- Current status and controversies in the treatment of neonatal hypoxic-ischemic encephalopathy: A review
- DDX3X syndrome: From clinical phenotypes to biological insights
- De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder
- Developmental and epileptic encephalopathy 33 caused by <em>EEF1A2</em> gene mutation: a case report
- Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology
- Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
- Double Cortex Syndrome: An Unusual Cause of Seizures
- Double gonosomal mosaicism as an unusual hereditary mechanism in familial <em>GRIN2A</em>-related disorder
- Efficacy and tolerability of Brivaracetam in people with intellectual disability compared to those without intellectual disability
- Efficacy and tolerability of levetiracetam in people with and without intellectual disabilities: A naturalistic case control study
- Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
- Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study
- Epilepsy professionals' views on sudden unexpected death in epilepsy counselling: A tale of two countries
- Establishment of an iPSC line from a NDD patient with a heterozygous mutation in the CTNNB1 gene
- Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study
- Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy
- Expanding the clinical phenotype and variant spectrum associated with RFX7
- Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
- Focal dystonia in an adult with L-2- hydroxyglutaric aciduria
- Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case
- Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population
- Glass syndrome derived from chromosomal breakage downstream region of SATB2
- GRM7 deficiency, from excitotoxicity and neuroinflammation to neurodegeneration: Systematic review of GRM7 deficient patients
- Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada
- Hemiplegic (unilateral) cerebral palsy in northern Stockholm: Intellectual disability and epilepsy
- Heterozygous variants in USP25 cause genetic generalized epilepsy
- hnRNPs: roles in neurodevelopment and implication for brain disorders
- Home-video EEG monitoring in a pediatric setting
- Hyperekplexia: A Single-Center Experience
- Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update
- Identification of Predictors for Progression of Scoliosis in Rett Syndrome
- Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders
- Increased susceptibility to kainate-induced seizures in a mouse model of tuberous sclerosis complex: Importance of sex and circadian cycle
- Inequalities in epilepsy in the UK: action is needed now
- Inherited <em>PURA</em> Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder
- Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience
- Japanese Public Health Insurance System's new genomic strategic action to shorten the "diagnostic odyssey" for patients with rare and intractable diseases
- Knowledge, attitudes and practices of psychiatrists in India regarding sudden unexpected death in epilepsy (SUDEP) and seizure-related harm
- Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report
- Medical and psychiatric comorbidities, somatic and cognitive symptoms, injuries and medical procedure history in patients with functional seizures from a public and a private hospital
- Multicenter retrospective study of patients with PCDH19-related epilepsy: The first Hungarian cohort
- Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
- Neurocognitive features in childhood & adulthood in autism spectrum disorder: A neurodiversity approach
- Neurologic comorbidity in psychiatric inpatients: evidence from neurologic consultations in a Spanish center
- Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil
- NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report
- Not So Rare: Diseases Based on Mutant Proteins Controlling Endoplasmic Reticulum-Mitochondria Contact (MERC) Tethering
- On Seizures and Knives: Perampanel-Induced Psychosis: A Case Report and Literature Review
- Overview of clinical and physiologic aspects of status epilepticus in the developmental and epileptic encephalopathies
- Pathways to epilepsy surgery in children with tuberous sclerosis complex-associated epilepsy
- Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials
- POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy
- Potentially avoidable mortality among adults with intellectual disability
- Presynaptic hyperexcitability reversed by positive allosteric modulation of a GABABR epilepsy variant
- Prevalence of Seizures in Children Diagnosed With Neurodevelopmental Disorders
- Psychogenic non-epileptic (functional) seizures in adults with intellectual disability and epilepsy: A matched case-control study
- Psychogenic non-epileptic seizures in individuals with intellectual disability/borderline cognitive function: Characterization through a comparison study
- Relationship between anti-seizure medication and behaviors that challenge in older persons with intellectual disability and epilepsy: a review
- Resting state EEG in young children with Tuberous Sclerosis Complex
- Risk of behavioral disturbances in pediatric patients with epilepsy and mild to moderate cognitive impairment: A cross-sectional study
- Risk of breakthrough seizures depends on type and etiology of epilepsy
- Semaphorin heterodimerization in cis regulates membrane targeting and neocortical wiring
- Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
- STXBP1: fast-forward to a brighter future - a patient organization perspective
- Subjective sleep assessment in individuals with <em>SYNGAP1</em>-associated syndrome
- Successful Electroconvulsive Therapy in a Patient With Catatonia and Maternal Duplication 15q11-13 Syndrome
- TBC1D24 is likely to regulate vesicle trafficking in glia-like non-sensory epithelial cells of the cochlea
- The Association between Autism Spectrum Disorder and Precocious Puberty: Considering Effect Modification by Sex and Neuropsychiatric Comorbidities
- The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review
- The Discovery of Mitochondria-Endoplasmic Reticulum Contact Sites (MERCs) as Mitochondria-Associated Membranes (MAMs)
- The Efficacy of Noninvasive Ventilation in Patients Affected by Rett Syndrome With Hypoventilation
- The epilepsy phenotype of KCNK4-related neurodevelopmental disease
- The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development
- The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family
- The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
- Treatment odyssey to epilepsy surgery in children with focal cortical dysplasia: Risk factors for delayed surgical intervention
- Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes
- Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant
- Using a picture-based book to support epilepsy care in clinical consultations for people with intellectual disabilities
- WONOEP appraisal: Modeling early onset epilepsies