Research & Literature

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

Grubišić V, Kennedy AJ, Sweatt JD, Parpura V

Autism research : official journal of the International Society for Autism Research 2015; (8(5)):629-33 doi:10.1002/aur.1467.

Epilepsy in Rett syndrome--lessons from the Rett networked database.

Nissenkorn A, Levy-Drummer RS, Bondi O, et al.

Epilepsia 2015; (56(4)):569-76 doi:10.1111/epi.12941.

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

Marangi G, Zollino M

Journal of pediatric genetics 2015; (4(3)):168-76 doi:10.1055/s-0035-1564570.

Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism.

Avina Fierro JA, Avina DA

Journal of pediatric genetics 2014; (3(3)):141-5 doi:10.3233/PGE-14094.

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study.

Mackay J, Downs J, Wong K, et al.

Journal of neurodevelopmental disorders 2017; (9()):15 doi:10.1186/s11689-017-9196-7.

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

Goodspeed K, Newsom C, Morris MA, et al.

Journal of child neurology 2018; (33(3)):233-244 doi:10.1177/0883073817750490.

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

Liu Y, Guo Y, Liu P, et al.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2018; (67()):51-54 doi:10.1016/j.ijdevneu.2018.03.010.

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

Mary L, Piton A, Schaefer E, et al.

European journal of human genetics : EJHG 2018; (26(7)):996-1006 doi:10.1038/s41431-018-0096-4.

Pitt-Hopkins Syndrome: A Unique Case Study.

Tan A, Goodspeed K, Edgar VB

Journal of the International Neuropsychological Society : JINS 2018; (24(9)):995-1002 doi:10.1017/S1355617718000668.

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

Zollino M, Zweier C, Van Balkom ID, et al.

Clinical genetics 2019; (95(4)):462-478 doi:10.1111/cge.13506.

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

Watkins A, Bissell S, Moss J, et al.

Journal of neurodevelopmental disorders 2019; (11(1)):24 doi:10.1186/s11689-019-9282-0.

Mowat-Wilson syndrome in a Chinese population: A case series.

Ho S, Luk HM, Chung BH, et al.

American journal of medical genetics. Part A 2020; (182(6)):1336-1341 doi:10.1002/ajmg.a.61557.

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

Tripon F, Bogliș A, Micheu C, et al.

Genes 2020; (11(6)) doi:10.3390/genes11060596.

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

Gandhi A, Zhou D, Alaimo J, et al.

Journal of autism and developmental disorders 2021; (51(6)):1852-1865 doi:10.1007/s10803-020-04666-2.

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

Macchiaiolo M, Panfili FM, Gonfiantini MV, et al.

American journal of medical genetics. Part A 2020; (182(11)):2746-2750 doi:10.1002/ajmg.a.61840.

Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.

Sparber P, Filatova A, Anisimova I, et al.

European journal of medical genetics 2020; (63(12)):104088 doi:10.1016/j.ejmg.2020.104088.

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

Yamada H, Tamasaki A, Oguri M, et al.

Epileptic disorders : international epilepsy journal with videotape 2020; (22(5)):673-677 doi:10.1684/epd.2020.1212.

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.

Currò A, Doddato G, Bruttini M, et al.

European journal of medical genetics 2021; (64(1)):104102 doi:10.1016/j.ejmg.2020.104102.

The adaptive functioning profile of Pitt-Hopkins syndrome.

Pearson E, Watkins A, Oliver C, et al.

European journal of medical genetics 2021; (64(9)):104279 doi:10.1016/j.ejmg.2021.104279.

A Chinese Boy with Mowat-Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene.

Wei L, Han X, Li X, et al.

Pharmacogenomics and personalized medicine 2021; (14()):1041-1045 doi:10.2147/PGPM.S320128.

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

Matricardi S, Bonanni P, Iapadre G, et al.

European journal of neurology 2022; (29(1)):19-25 doi:10.1111/ene.15104.

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

Kirikae H, Uematsu M, Numata-Uematsu Y, et al.

Brain & development 2022; (44(2)):148-152 doi:10.1016/j.braindev.2021.09.003.

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

Sirp A, Roots K, Nurm K, et al.

The Journal of biological chemistry 2021; (297(6)):101381 doi:10.1016/j.jbc.2021.101381.

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

Bone M, Goodspeed K

Child neurology open 2022; (9()):2329048X221093172 doi:10.1177/2329048X221093172.

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

Kim H, Gao EB, Draper A, et al.

eLife 2022; (11()).

Fatal gastrointestinal complications in Pitt-Hopkins syndrome.

Koppen IJN, Menke LA, Westra WM, et al.

American journal of medical genetics. Part A 2023; (191(3)):855-858 doi:10.1002/ajmg.a.63079.

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.

Aldeeri AA, Abu-El-Haija A

American journal of medical genetics. Part A 2023; (191(4)):1070-1076 doi:10.1002/ajmg.a.63098.

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

Huang Y, Di Y, Zhang XX, et al.

World journal of clinical cases 2022; (10(34)):12734-12741 doi:10.12998/wjcc.v10.i34.12734.

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

Nokelainen P, Perez-Macias JM, Himanen SL, et al.

Child neurology open 2023; (10()):2329048X231151361 doi:10.1177/2329048X231151361.

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

Comisi F, Esposito E, Marras M, et al.

Cureus 2023; (15(8)):e43781 doi:10.7759/cureus.43781.

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

Malik S, Jeanpierre L, Cianferoni A, et al.

American journal of medical genetics. Part A 2024; (194(4)):e63490 doi:10.1002/ajmg.a.63490.

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

Reaney L, Collins A

BMJ case reports 2024; (17(2)) doi:10.1136/bcr-2023-258257.

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

Istanbullu C, Kayan Ocakoglu B, Karacetin G

Neurocase 2023; (29(4)):117-120 doi:10.1080/13554794.2024.2348230.

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

Telenga M, Rozensztrauch A, Giżewska-Kacprzak K, Śmigiel R

Journal of clinical medicine 2024; (13(9)) doi:10.3390/jcm13092605.

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

Hassona Y, Alqaisi D, Alkilani A, AbuHijleh I

BMC oral health 2024; (24(1)):597 doi:10.1186/s12903-024-04296-5.

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

Chiu C, Küchler A, Depienne C, et al.

Skeletal muscle 2024; (14(1)):15 doi:10.1186/s13395-024-00348-0.

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

Zhao T, Yang F, Zhang B, et al.

Orphanet journal of rare diseases 2024; (19(1)):368 doi:10.1186/s13023-024-03383-8.

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

Arnold ZE, Root HK, Leonczyk C, et al.

Translational science of rare diseases 2025; (8(1)):19-23 doi:10.1177/22146490241291671.

Multi-targeting zinc finger nuclease vector unsilences paternal UBE3A in a mouse model of Angelman syndrome.

Bazick HO, James LM, Taylor-Blake B, et al.

Gene therapy 2026; (33(1)):57-67 doi:10.1038/s41434-025-00582-1.

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

Vasta G, Angotti R, Contini G, et al.

Frontiers in pediatrics 2025; (13()):1705547 doi:10.3389/fped.2025.1705547.

Pitt-Hopkins syndrome (PTHS)- a case report from Pakistan.

Nasir A, Afroze B, Ilyas S, et al.

JPMA. The Journal of the Pakistan Medical Association 2026; (76(7)):1163-1165 doi:10.47391/JPMA.30215.

Interventions targeting challenges experienced by individuals with Pitt Hopkins syndrome: a scoping review.

Dolik-Michno M, Starbrink M, Wandin H, et al.

Orphanet journal of rare diseases 2026; (21(1)).