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Quoted phrase not found in phrase index: "Pachygyria-intellectual disability-epilepsy syndrome"
Page 1
Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations.
Granild Bie Mertz L, Christensen R, Vogel I, Hertz JM, Østergaard JR. Granild Bie Mertz L, et al. Res Dev Disabil. 2016 Sep;56:177-82. doi: 10.1016/j.ridd.2016.06.002. Res Dev Disabil. 2016. PMID: 27323320
BACKGROUND: Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and low threshold for laughter. ...
BACKGROUND: Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and l …
Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.
van Karnebeek CD, Bowden K, Berry-Kravis E. van Karnebeek CD, et al. Pediatr Neurol. 2016 Dec;65:1-13. doi: 10.1016/j.pediatrneurol.2016.07.010. Epub 2016 Jul 26. Pediatr Neurol. 2016. PMID: 27697313 Review.
METHODS: In this review, we focus on the following neurogenetic developmental conditions: (1) inborn errors of metabolism causing neurogenetic developmental conditions, (2) fragile X syndrome, (3) Rett syndrome, (4) tuberous sclerosis complex, 5) Down syndrome …
METHODS: In this review, we focus on the following neurogenetic developmental conditions: (1) inborn errors of metabolism causing neurogenet …
Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.
Ebrahimi-Fakhari D. Ebrahimi-Fakhari D. Neuropediatrics. 2018 Feb;49(1):18-25. doi: 10.1055/s-0037-1608652. Epub 2017 Nov 7. Neuropediatrics. 2018. PMID: 29112993 Review.
Over the last 5 years, several single gene disorders of the autophagy pathway have emerged: EPG5-associated Vici syndrome, WDR45-associated beta-propeller protein-associated neurodegeneration, SNX14-associated autosomal-recessive spinocerebellar ataxia 20, ATG5-associated …
Over the last 5 years, several single gene disorders of the autophagy pathway have emerged: EPG5-associated Vici syndrome, WDR45-asso …
GLUT1 deficiency syndrome into adulthood: a follow-up study.
Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA. Leen WG, et al. J Neurol. 2014 Mar;261(3):589-99. doi: 10.1007/s00415-014-7240-z. Epub 2014 Jan 12. J Neurol. 2014. PMID: 24413642 Review.
GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed. Besides the classic phenotype of intellectual disability, epilepsy, and movement disorders, other phenotypes are increasingly re …
GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed. Be …
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. Skopkova M, et al. Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23. Hum Mutat. 2017. PMID: 28055140 Free PMC article.
Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multisystemic syndromes. Here, we link MEHMO syndrome, whose genetic etiology was unkn …
Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response ha …
Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy.
Teinert J, Behne R, Wimmer M, Ebrahimi-Fakhari D. Teinert J, et al. J Inherit Metab Dis. 2020 Jan;43(1):51-62. doi: 10.1002/jimd.12084. Epub 2019 Apr 8. J Inherit Metab Dis. 2020. PMID: 30854657 Review.
While these disorders are heterogeneous, they share several clinical and molecular characteristics including a prominent and progressive involvement of the central nervous system leading to brain malformations, developmental delay, intellectual disability, epilepsy, …
While these disorders are heterogeneous, they share several clinical and molecular characteristics including a prominent and progressive inv …
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.
Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin M. Ebrahimi-Fakhari D, et al. Brain. 2016 Feb;139(Pt 2):317-37. doi: 10.1093/brain/awv371. Epub 2015 Dec 29. Brain. 2016. PMID: 26715604 Free PMC article. Review.
Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, and neurodegeneration, among others. ...Here we di …
Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to brain malformations, …
Obesity and neurodevelopmental and mental health conditions among adolescents aged 10-17 years: The National Survey of Children's Health 2017-2018.
Buro AW, Salinas-Miranda A, Marshall J, Gray HL, Kirby RS. Buro AW, et al. J Paediatr Child Health. 2022 Oct;58(10):1753-1759. doi: 10.1111/jpc.16081. Epub 2022 Jun 24. J Paediatr Child Health. 2022. PMID: 35748345 Free PMC article.
This study examined the association between obesity and several co-occurring conditions - autism spectrum disorder (ASD); intellectual disability; learning disability; stuttering, stammering or other speech problems; developmental delay; attention-deficit hyperactivity disorder; …
This study examined the association between obesity and several co-occurring conditions - autism spectrum disorder (ASD); intellectual disab …
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group; Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA; Trimouille A, Kleefstra T, Verloes A, Vissers LELM. de Boer E, et al. Eur J Hum Genet. 2021 Sep;29(9):1359-1368. doi: 10.1038/s41431-021-00900-2. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075211 Free PMC article.
Within the Solve-RD consortium, systematic re-analysis of whole exome sequencing (WES) data from unresolved cases with (syndromic) intellectual disability (n = 1,472 probands) was performed. ...We identified a functionally relevant mtDNA variant in MT-TL1 (NC_012920.1:m.32 …
Within the Solve-RD consortium, systematic re-analysis of whole exome sequencing (WES) data from unresolved cases with (syndromic) in …
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.
Prat D, Katowitz WR, Strong A, Katowitz JA. Prat D, et al. Ophthalmic Genet. 2021 Apr;42(2):186-188. doi: 10.1080/13816810.2020.1868012. Epub 2021 Jan 3. Ophthalmic Genet. 2021. PMID: 33393407
Background: Koolen-de Vries syndrome (KdVS) (OMIM #610443) or 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental and speech delay, intellectual disability, epilepsy, hypotonia, characteristic facial features, and …
Background: Koolen-de Vries syndrome (KdVS) (OMIM #610443) or 17q21.31 microdeletion syndrome, is a rare genetic disorder char …
31 results