Juvenile reinstatement of TCF4 in Pitt-Hopkins syndrome model mice reveals a critical window for genetic intervention.

The E-Protein Daughterless Regulates Olfactory Learning of Adult Drosophila melanogaster.

Gastric volvulus and wandering spleen in Pitt-Hopkins syndrome: first paediatric case report.

Monogenic defects in Russian children with autism spectrum disorders.

Transcription factor 4 regulates the interhemispheric midline remodeling through neuron-astroglia communications during corpus callosum formation.

The gut microbiome shapes social behaviour across animal species.

High prevalence of eosinophilic esophagitis and hypogammaglobulinemia in patients with Pitt-Hopkins syndrome.

Pitt-Hopkins syndrome: A case report of mild impairments and musical talents.

Repurposing nicardipine leads to improved development in a young patient with Pitt-Hopkins syndrome.

Characterization of astrocyte density in the Pitt-Hopkins Syndrome mouse model of ASD.

Tcf4 Deficiency causes recurrent seizures in mice.

An attempt to explain what intrinsically disordered TCF4 does in its spare time when PTHS-related mutations prevent it from doing its job.

A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation.

The molecular properties of the bHLH TCF4 protein as an intrinsically disordered hub transcription factor.

Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature.

Gene network analysis identifies dysregulated pathways in an autism spectrum disorder caused by mutations in Transcription Factor 4.

Transcription factor TCF4: structure, function, and associated diseases.

MicroRNA-495 Modulates Neuronal Layer Fate Determination by Targeting Tcf4.

NRXN1-related disorders, attempt to better define clinical assessment.

Broadening the PHIP-Associated Neurodevelopmental Phenotype.

[Clinical and genetic characteristics of children with Pitt-Hopkins syndrome caused by TCF4 gene variants].

Transcription factor 4 expression in the developing non-human primate brain: a comparative analysis with the mouse brain.

A novel variant in the 3' UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report.

Astrocyte allocation during brain development is controlled by Tcf4-mediated fate restriction.

Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.

MeCP2 gene therapy ameliorates disease phenotype in mouse model for Pitt Hopkins syndrome.

Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations.

From Genotype to Phenotype of Polish Patients with Pitt-Hopkins Syndrome concerning the Quality of Life and Family Functioning.

A case of Pitt-Hopkins syndrome: psychopharmacological approach for anxiety, insomnia, and agitation.

[Genetic analysis of a fetus with Pitt-Hopkins syndrome due to a 18q21.2q21.31 microdeletion].

Tcf4 dysfunction alters dorsal and ventral cortical neurogenesis in Pitt-Hopkins syndrome mouse model showing sexual dimorphism.

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Complex visceral hyperalgesia in an adolescent with Pitt-Hopkins syndrome.

Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective study.

Complex Craniosynostosis in Pitt-Hopkins Syndrome: Case Report in Twins.

A patient with Pitt-Hopkins syndrome with concomitant common variable immunodeficiency.

[Analysis of genetic variant in a child with Pitt-Hopkins syndrome].

Psychiatric risk gene Transcription Factor 4 (TCF4) regulates the density and connectivity of distinct inhibitory interneuron subtypes.

A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family.

Unusual Inconsolable Crying: An Insight, Case Report, and Review of the Literature on the Pitt-Hopkins Gastrointestinal Phenotype.

TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons.

Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

18q21.1q21.32 Deletion in a Patient With Juvenile Cerebral Infarction.

[Pitt-Hopkins syndrome caused by TCF4 gene novel mutation in a child].

[Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism].

Promyelinating drugs promote functional recovery in an autism spectrum disorder mouse model of Pitt-Hopkins syndrome.

Methods for Detecting Abnormal Ventilation in Children - the Case Study of 13-Years old Pitt-Hopkins Girl.

Surgical treatment of Pitt-Hopkins syndrome associated with strabismus and early-onset myopia: Two case reports.

A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder.

Fatal gastrointestinal complications in Pitt-Hopkins syndrome.

Expression of alternative transcription factor 4 mRNAs and protein isoforms in the developing and adult rodent and human tissues.

Evaluation of Nav1.8 as a therapeutic target for Pitt Hopkins Syndrome.

[Genetic analysis of a child with Pitt-Hopkins syndrome due to a 18q21.2q21.32 deletion].

Molecular Organization and Patterning of the Medulla Oblongata in Health and Disease.

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.

Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn.

Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of Tcf4 expression.

Transcription Factor 4 loss-of-function is associated with deficits in progenitor proliferation and cortical neuron content.

A Case Report of Topiramate for Severe Breath Holding Spells in a Teenage Boy with Pitt-Hopkins Syndrome.

Simultaneous monitoring of oxygen and carbon dioxide for Pitt-Hopkins syndrome.

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.

The Fecal Microbiome and Metabolome of Pitt Hopkins Syndrome, a Severe Autism Spectrum Disorder.

Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.

Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia.

Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression.

Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation.

Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 gene.

Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.

The adaptive functioning profile of Pitt-Hopkins syndrome.

Effective Electroconvulsive Therapy for Catatonia in a Patient With Pitt-Hopkins Syndrome and Autism Spectrum Disorder.

Molecular and Cellular Function of Transcription Factor 4 in Pitt-Hopkins Syndrome.

Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations.

Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy.

Transcription factor 4 controls positioning of cortical projection neurons through regulation of cell adhesion.

Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol.

Survival control of oligodendrocyte progenitor cells requires the transcription factor 4 during olfactory bulb development.

Transcription factor 4 and its association with psychiatric disorders.

Enriched environment ameliorates adult hippocampal neurogenesis deficits in Tcf4 haploinsufficient mice.

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.

[Genetic analysis of a case with Pitt-Hopkins syndrome due to variant of TCF4 gene].

Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome.

Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures.

Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome.

Short and thick corpus callosum - the thin border between a minor anatomical variant to very poor outcome.

Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome.

Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD.

Region and Cell Type Distribution of TCF4 in the Postnatal Mouse Brain.

Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome.

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.

Repurposing the Dihydropyridine Calcium Channel Inhibitor Nicardipine as a Nav1.8 Inhibitor In Vivo for Pitt Hopkins Syndrome.

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient.

Tcf4 is required for correct brain development during embryogenesis.

[Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene].

A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.

The basic helix-loop-helix transcription factor TCF4 impacts brain architecture as well as neuronal morphology and differentiation.

Transcription Factor 4 Safeguards Hippocampal Dentate Gyrus Development by Regulating Neural Progenitor Migration.

Perampanel-induced hair curling in a patient with epilepsy associated with Pitt Hopkins syndrome.

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes.

The first case of a non-infertile female patient with Pitt-Hopkins syndrome.

Repurposing Approved Drugs as Inhibitors of Kv7.1 and Nav1.8 to Treat Pitt Hopkins Syndrome.

Structural basis for preferential binding of human TCF4 to DNA containing 5-carboxylcytosine.

SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation.

TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma.

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.

Disruption of TCF4 regulatory networks leads to abnormal cortical development and mental disabilities.

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

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

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.

Overlap of the Pitt-Hopkins and Lennox-Gastaut syndromes.

Pitt-Hopkins Syndrome: A Unique Case Study.

Hopkins Syndrome in a 14 Year Old Boy; a Case Report.

Tcf4 regulates dendritic spine density and morphology in the adult brain.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

Catathrenia in Pitt-Hopkins syndrome associated with 18q interstitial deletion.

A case of Pitt-hopkins Syndrome with de novo mutation in TCF4: Clinical features and treatment for epilepsy.

Low-Dose Aripiprazole and Risperidone for Treating Problem Behavior in Children With Pitt-Hopkins Syndrome.

Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons.

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability.

Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.

Neurexins and neuropsychiatric disorders.

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.

The Intellectual Disability and Schizophrenia Associated Transcription Factor TCF4 Is Regulated by Neuronal Activity and Protein Kinase A.

WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

Intragenic CNTNAP2 Deletions: A Bridge Too Far?

A new case of Pitt-Hopkins-like syndrome 2?

Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome.

Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome.

An adapted walking intervention for a child with Pitt Hopkins syndrome<sup/>.

Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome.

A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes.

Tcf4 Controls Neuronal Migration of the Cerebral Cortex through Regulation of Bmp7.

Knockdown of the schizophrenia susceptibility gene TCF4 alters gene expression and proliferation of progenitor cells from the developing human neocortex.

Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge.

Tcf4 Regulates Synaptic Plasticity, DNA Methylation, and Memory Function.

Unstable repeat expansion in major psychiatric disorders: two decades on, is dynamic DNA back on the menu?

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.

Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.

Nucleolar Enrichment of Brain Proteins with Critical Roles in Human Neurodevelopment.

Psychiatric Risk Gene Transcription Factor 4 Regulates Intrinsic Excitability of Prefrontal Neurons via Repression of SCN10a and KCNQ1.

Drugging the methylome: DNA methylation and memory.

Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless.

E Proteins and ID Proteins: Helix-Loop-Helix Partners in Development and Disease.

Consequences of chromsome18q deletions.

The second brain in autism spectrum disorder: could connexin 43 expressed in enteric glial cells play a role?

Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.

Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome.

Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders.

Pitt-Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo.