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Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound intellectual disability (n = 17) and epilepsy (n = 21). ...We have defined the main features associated with biallelic CNTNAP2 varian …
Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to pr …
22q11.2 duplication: a review of neuropsychiatric correlates and a newly observed case of prototypic sociopathy.
Vyas S, Constantino JN, Baldridge D. Vyas S, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004291. doi: 10.1101/mcs.a004291. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31836587 Free PMC article. Review.
Callous-unemotional (CU) traits are highly disabling behavioral characteristics, common predictors of delinquency and criminality, and pathognomonic for antisocial personality disorder. They are highly heritable, but their specific molecular genetic causes are unkno …
Callous-unemotional (CU) traits are highly disabling behavioral characteristics, common predictors of delinquency and criminality, an …
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM. Fetta A, et al. Orphanet J Rare Dis. 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. Orphanet J Rare Dis. 2024. PMID: 38459574 Free PMC article. Review.
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain mal …
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological invo …
Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.
Woods E, Spiller M, Balasubramanian M. Woods E, et al. Am J Med Genet A. 2022 Mar;188(3):931-940. doi: 10.1002/ajmg.a.62580. Epub 2021 Nov 25. Am J Med Genet A. 2022. PMID: 34821460 Free article. Review.
We describe clinical details, including novel findings, of two further children with the newly defined TLK2-related disorder. One patient was recruited to the Deciphering Developmental Delay (DDD) Study to identify underlying etiology of global development …
We describe clinical details, including novel findings, of two further children with the newly defined TLK2-related disorder. One pat …
Neurodevelopmental and Psychiatric Symptoms in Patients with a Cyst Compressing the Cerebellum: an Ongoing Enigma.
Guell X, Anteraper SA, Ghosh SS, Gabrieli JDE, Schmahmann JD. Guell X, et al. Cerebellum. 2020 Feb;19(1):16-29. doi: 10.1007/s12311-019-01050-4. Cerebellum. 2020. PMID: 31321675 Free PMC article. Review.
A patient diagnosed with developmental delay, intellectual disability, and autistic and obsessive-compulsive symptoms was found to have a posterior fossa arachnoid cyst (PFAC) compressing the cerebellum. ...Our findings and discussion may guide future investigations …
A patient diagnosed with developmental delay, intellectual disability, and autistic and obsessive-compulsive symptoms was foun …