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Quoted phrase not found in phrase index: "Cortical dysplasia, complex, with other brain malformations 12"
Page 1
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC. Almousa H, et al. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627
Movement disorders including stereotypies, spasticity and dystonia were also observed. Brain imaging revealed reductions in cortex, cerebellum and corpus callosum size with frequent white matter hyperintensity. ...These features overlap with disorders arising from p …
Movement disorders including stereotypies, spasticity and dystonia were also observed. Brain imaging revealed reductions in co …
Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex.
Levine A, Davis P, Zhang B, Peters J, Filip-Dhima R, Warfield SK, Prohl A, Capal J, Krueger D, Bebin EM, Northrup H, Wu JY, Sahin M; TACERN Study Group. Levine A, et al. Pediatr Neurol. 2023 Jul;144:26-32. doi: 10.1016/j.pediatrneurol.2023.03.015. Epub 2023 Mar 29. Pediatr Neurol. 2023. PMID: 37119787
BACKGROUND: Abnormal brain growth in tuberous sclerosis complex (TSC) reflects abnormalities in cellular proliferation and differentiation and results in epilepsy and other neurological manifestations. Head circumference (HC) as a proxy for brain volum …
BACKGROUND: Abnormal brain growth in tuberous sclerosis complex (TSC) reflects abnormalities in cellular proliferation …
Surgery for tuberous sclerosis complex-related epilepsy: Risk factors for an unfavorable seizure outcome.
d'Orio P, Pelliccia V, Biondi D, Scarpa P, Gozzo F, Revay M, Cardinale F, Tassi L, Cossu M. d'Orio P, et al. Seizure. 2022 Apr;97:8-14. doi: 10.1016/j.seizure.2022.02.013. Epub 2022 Feb 27. Seizure. 2022. PMID: 35247673 Free article.
PURPOSE: This study aimed to identify risk factors of postoperative seizure outcome in a consecutive cohort of patients operated on for TSC-related focal epilepsy, by evaluating several presurgical and surgical variables, including also MRI-visible brain abnormalities …
PURPOSE: This study aimed to identify risk factors of postoperative seizure outcome in a consecutive cohort of patients operated on for TSC- …
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.
Willems LM, Schubert-Bast S, Grau J, Hertzberg C, Kurlemann G, Wiemer-Kruel A, Bast T, Bertsche A, Bettendorf U, Fiedler B, Hahn A, Hartmann H, Hornemann F, Immisch I, Jacobs J, Kieslich M, Klein KM, Klotz KA, Kluger G, Knuf M, Mayer T, Marquard K, Meyer S, Muhle H, Müller-Schlüter K, Noda AH, Ruf S, Sauter M, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wilken B, Zöllner JP, Rosenow F, Strzelczyk A. Willems LM, et al. Eur J Paediatr Neurol. 2021 Nov;35:111-122. doi: 10.1016/j.ejpn.2021.10.003. Epub 2021 Oct 7. Eur J Paediatr Neurol. 2021. PMID: 34673401
RESULTS: The mean HRQOL score was 67.9 12.7, and significantly lower values were associated with increasing age, attending special needs education, TSC-associated psychiatric symptoms, and drug-related adverse events. ...Multivariate regression analysis revealed ado …
RESULTS: The mean HRQOL score was 67.9 12.7, and significantly lower values were associated with increasing age, attending spe …
Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis.
Licchetta L, Bruschi G, Stipa C, Belotti LMB, Ferri L, Mostacci B, Vignatelli L, Minardi R, Di Vito L, Muccioli L, Boni A, Tinuper P, Bisulli F. Licchetta L, et al. Epilepsy Behav. 2024 Apr;153:109688. doi: 10.1016/j.yebeh.2024.109688. Epub 2024 Feb 29. Epilepsy Behav. 2024. PMID: 38428171
RESULTS: We selected 43 patients with TSC and neurological involvement in terms of epilepsy and/or brain lesions, attending the Epilepsy Center of our Institute: of them, 16 (37.2%) were transitioning from the pediatric care and 6 (13.9%) were referred by other specialists …
RESULTS: We selected 43 patients with TSC and neurological involvement in terms of epilepsy and/or brain lesions, attending the Epile …
How does the interaction of presumed timing, location and extent of the underlying brain lesion relate to upper limb function in children with unilateral cerebral palsy?
Mailleux L, Klingels K, Fiori S, Simon-Martinez C, Demaerel P, Locus M, Fosseprez E, Boyd RN, Guzzetta A, Ortibus E, Feys H. Mailleux L, et al. Eur J Paediatr Neurol. 2017 Sep;21(5):763-772. doi: 10.1016/j.ejpn.2017.05.006. Epub 2017 May 29. Eur J Paediatr Neurol. 2017. PMID: 28606752
BACKGROUND: Upper limb (UL) function in children with unilateral cerebral palsy (CP) vary largely depending on presumed timing, location and extent of brain lesions. These factors might exhibit a complex interaction and the combined prognostic value warrants further …
BACKGROUND: Upper limb (UL) function in children with unilateral cerebral palsy (CP) vary largely depending on presumed timing, location and …
Upregulation of breast cancer resistance protein and major vault protein in drug resistant epilepsy.
Banerjee Dixit A, Sharma D, Srivastava A, Banerjee J, Tripathi M, Prakash D, Sarat Chandra P. Banerjee Dixit A, et al. Seizure. 2017 Apr;47:9-12. doi: 10.1016/j.seizure.2017.02.014. Epub 2017 Feb 27. Seizure. 2017. PMID: 28273590 Free article.
However the resistance to drugs in DRE could be more complex and multifactorial involving molecules in different pharmacokinetic processes. In this study for the first time we have analyzed the relative expression of four molecules with different drug resistance mechanisms …
However the resistance to drugs in DRE could be more complex and multifactorial involving molecules in different pharmacokinetic proc …
Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex.
Joinson C, O'Callaghan FJ, Osborne JP, Martyn C, Harris T, Bolton PF. Joinson C, et al. Psychol Med. 2003 Feb;33(2):335-44. doi: 10.1017/s0033291702007092. Psychol Med. 2003. PMID: 12622312
All individuals with learning disability had a history of seizures that usually commenced before 12 months of age and that often presented as infantile spasms. Multivariate analyses indicated that a history of seizures as well as a history of infantile spasms was predic …
All individuals with learning disability had a history of seizures that usually commenced before 12 months of age and that often pres …
Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.
Kotulska K, Borkowska J, Mandera M, Roszkowski M, Jurkiewicz E, Grajkowska W, Bilska M, Jóźwiak S. Kotulska K, et al. Childs Nerv Syst. 2014 Dec;30(12):2037-42. doi: 10.1007/s00381-014-2555-8. Epub 2014 Sep 17. Childs Nerv Syst. 2014. PMID: 25227171 Free PMC article.
PURPOSE: Subependymal giant cell astrocytoma (SEGA) is a brain tumor associated with tuberous sclerosis complex (TSC). It usually grows in a second decade of life, but may develop in the first months of life. ...Seven patients underwent SEGA surgery and surgery-rela …
PURPOSE: Subependymal giant cell astrocytoma (SEGA) is a brain tumor associated with tuberous sclerosis complex (TSC). It usua …
Midbrain-hindbrain involvement in lissencephalies.
Jissendi-Tchofo P, Kara S, Barkovich AJ. Jissendi-Tchofo P, et al. Neurology. 2009 Feb 3;72(5):410-8. doi: 10.1212/01.wnl.0000333256.74903.94. Epub 2008 Nov 19. Neurology. 2009. PMID: 19020296 Free PMC article.
OBJECTIVES: To determine the involvement of the midbrain and hindbrain (MHB) in the groups of classic (cLIS), variant (vLIS), and cobblestone complex (CBSC) lissencephalies and to determine whether a correlation exists between the cerebral malformation and the MHB …
OBJECTIVES: To determine the involvement of the midbrain and hindbrain (MHB) in the groups of classic (cLIS), variant (vLIS), and cobbleston …
21 results