Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2006 1
2008 1
2009 1
2010 1
2011 1
2013 3
2014 7
2015 3
2016 8
2017 2
2018 2
2019 5
2020 7
2021 3
2022 3
2023 1
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

46 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Pachygyria-intellectual disability-epilepsy syndrome"
Page 1
SCN1A-related phenotypes: Epilepsy and beyond.
Scheffer IE, Nabbout R. Scheffer IE, et al. Epilepsia. 2019 Dec;60 Suppl 3:S17-S24. doi: 10.1111/epi.16386. Epilepsia. 2019. PMID: 31904117 Review.
Development is normal in the first year of life but plateaus rapidly, with most patients ultimately having intellectual disability. Epilepsy is drug-resistant and necessitates polytherapy. ...In addition, ASD features are often reported in patients with Dravet sy …
Development is normal in the first year of life but plateaus rapidly, with most patients ultimately having intellectual disability. …
Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome.
Solazzi R, Fiorini E, Parrini E, Guerrini R, Bernardina BD, Nardocci N, Cantalupo G. Solazzi R, et al. Epileptic Disord. 2021 Oct 1;23(5):745-748. doi: 10.1684/epd.2021.1328. Epileptic Disord. 2021. PMID: 34583915
PURA syndrome is a distinct form of developmental encephalopathy, characterized by early-onset hypotonia, severe developmental delay, intellectual disability, epilepsy and respiratory and gastrointestinal disorders. ...Furthermore, PURA syndrome should …
PURA syndrome is a distinct form of developmental encephalopathy, characterized by early-onset hypotonia, severe developmental delay, …
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 …
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 …
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, …
Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.
Bonanni P, Casellato S, Fabbro F, Negrin S. Bonanni P, et al. Am J Med Genet A. 2017 Oct;173(10):2753-2757. doi: 10.1002/ajmg.a.38373. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28815953
Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. ...
Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-2 …
Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation.
Padmanabha H, Saini AG, Sahu JK, Singhi P. Padmanabha H, et al. BMJ Case Rep. 2017 Dec 22;2017:bcr2017222050. doi: 10.1136/bcr-2017-222050. BMJ Case Rep. 2017. PMID: 29275387 Free PMC article.
Loss of function mutations in SLC9A6 gene in children has been associated with Christianson syndrome and autism spectrum disorder. We describe a 3-year-old boy with intellectual disability, infantile-onset drug-refractory epilepsy, progressive brain atrophy and large head …
Loss of function mutations in SLC9A6 gene in children has been associated with Christianson syndrome and autism spectrum disorder. We …
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.
Yamada M, Suzuki H, Futagawa H, Takenouchi T, Miya F, Yoshihashi H, Kosaki K. Yamada M, et al. Eur J Med Genet. 2022 Jun;65(6):104512. doi: 10.1016/j.ejmg.2022.104512. Epub 2022 Apr 18. Eur J Med Genet. 2022. PMID: 35439611
At least 19 genes have been implicated in the development of OFD syndrome. Herein, we report the case a 13-year-old patient with atrioventricular septal defect, moderate intellectual disability, epilepsy, and features of OFD, including multiple oral frenula, …
At least 19 genes have been implicated in the development of OFD syndrome. Herein, we report the case a 13-year-old patient with atri …
PHF21A Related Disorder: Description of a New Case.
Butera A, Nicotera AG, Di Rosa G, Musumeci SA, Vitello GA, Musumeci A, Vinci M, Gloria A, Federico C, Saccone S, Calì F. Butera A, et al. Int J Mol Sci. 2022 Dec 17;23(24):16130. doi: 10.3390/ijms232416130. Int J Mol Sci. 2022. PMID: 36555772 Free PMC article.
Data from literature relates PHF21A variants with Potocki-Shaffer Syndrome (PSS), a contiguous gene deletion disorder caused by the haploinsufficiency of PHF21A, ALX4, and EXT2 genes. ...In conclusion, these patients showed varied clinical expressions, mainly including the …
Data from literature relates PHF21A variants with Potocki-Shaffer Syndrome (PSS), a contiguous gene deletion disorder caused by the h …
MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.
Rocha H, Sampaio M, Rocha R, Fernandes S, Leão M. Rocha H, et al. Eur J Med Genet. 2016 Sep;59(9):478-82. doi: 10.1016/j.ejmg.2016.05.017. Epub 2016 May 31. Eur J Med Genet. 2016. PMID: 27255693 Review.
INTRODUCTION: MEF2C haploinsufficiency syndrome is characterized by severe intellectual disability, epilepsy, stereotypic movements, minor dysmorphisms and brain abnormalities. ...Molecular analysis revealed a de novo, pathogenic and causative MEF2C mutation. …
INTRODUCTION: MEF2C haploinsufficiency syndrome is characterized by severe intellectual disability, epilepsy, stereotyp …
46 results