[Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant].

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.

AAV-mediated neuronal expression of FOXG1 restores oligodendrocyte maturation, myelination, and hippocampal structure in mouse models of FOXG1 syndrome.

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

Clinical and Molecular Spectrum of PPP2R1A-Related Neurodevelopmental Disorders: A Systematic Review.

Syngap1 and the development of murine neocortical progenitor cells.

Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.

First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders.

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

Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male Patients.

Landau-Kleffner Syndrome Can Herald the Diagnosis of GRIN2A Gene Mutation.

Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review.

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

Hexasomy of the 15q11q13 region: a detailed report and review of the literature.

Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders.

Christianson Syndrome Family Experiences: Results From Caregiver Interviews.

KBG syndrome: report and follow-up on three unrelated patients observed at different ages.

C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.

NRXN2 Homozygous Variant Identified in a Family with Global Developmental Delay, Severe Intellectual Disability, EEG Abnormalities and Speech Delay: A new Syndrome?

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

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

BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing.

Identification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review.

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

Clinical-grade intranasal NGF fuels neurological and metabolic functions of Mecp2-deficient mice.

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

Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.

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

Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.

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

A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder.

Breaking the rules of SLC6 transporters: Export of the human creatine transporter-1 from the endoplasmic reticulum is supported by its N-terminus.

Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Genetic outcomes in children with developmental language disorder: a systematic review.

Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.

Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.

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

[Phelan-McDermid syndrome associated with a novel heterozygous mutation in the SHANK3 gene].

Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome.

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.

Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature.

PHF21A Related Disorder: Description of a New Case.

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

Autism: A model of neurodevelopmental diversity informed by genomics.

Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.

Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.

Obesity and neurodevelopmental and mental health conditions among adolescents aged 10-17 years: The National Survey of Children's Health 2017-2018.

Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.

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

Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?

Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome.

Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.

Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example.

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants.

Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.

Zeb2 regulates the balance between retinal interneurons and Müller glia by inhibition of BMP-Smad signaling.

Molecular, physiological and behavioral characterization of the heterozygous Df[h15q13]/+ mouse model associated with the human 15q13.3 microdeletion syndrome.

ODLURO syndrome: personal experience and review of the literature.

Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1-34 deletion: case report and literature review.

Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome.

Mowat-Wilson syndrome: growth charts.

Lamotrigine induced Brugada-pattern in a patient with genetic epilepsy associated with a novel variant in SCN9A.

Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.

Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy.

Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter.

Angelman Syndrome: From Mouse Models to Therapy.

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.

Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster.

Commentary on "Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review".

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review.

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

A new novel nonsense mutation in AIPL1 in a LCA4 family.

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly.

Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.

Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.

Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature.

Rare Case of a Heterozygous Microdeletion 9q21.11-q21.2: Clinical and Genetic Characteristics.

Association of Child Neurology-Indian Epilepsy Society Consensus Document on Social and Legal Aspects of Childhood Epilepsy (SOLACE).

LETM1 is required for mitochondrial homeostasis and cellular viability (Review).

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy.

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development.

Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.

Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation.

Neuroimaging findings in Pallister-Killian syndrome.

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.

Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

PIGO deficiency: palmoplantar keratoderma and novel mutations.

[MECP2 duplication syndrome: a clinical analysis of three cases and literature review].

Alterations in the carnitine cycle in a mouse model of Rett syndrome.

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.

Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome.

Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.

15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypes.

Sip1 regulates the generation of the inner nuclear layer retinal cell lineages in mammals.

Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations.

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

Angelman Syndrome: A Case Report.

A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features.

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.

Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication.

TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME.

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

Dysregulation of FOXG1 by ring chromosome 14.

[Inherited GPI deficiencies:a new disease with intellectual disability and epilepsy].

Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities.