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
2008 1
2009 1
2013 1
2014 2
2015 3
2016 3
2017 4
2018 2
2019 4
2020 5
2021 1
2023 1

Text availability

Article attribute

Article type

Publication date

Search Results

22 results

Results by year

Filters applied: . Clear all
The following term was not found in PubMed: Pachygyria-intellectual
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.
SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal channelopathy associated with a wide phenotypic spectrum of epilepsies ranging from genetic epi …
SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several epilepsy syndromes and a range of other …
ODLURO syndrome: personal experience and review of the literature.
Conforti R, Iovine S, Santangelo G, Capasso R, Cirillo M, Fratta M, Caranci F. Conforti R, et al. Radiol Med. 2021 Feb;126(2):316-322. doi: 10.1007/s11547-020-01255-2. Epub 2020 Jul 20. Radiol Med. 2021. PMID: 32691224 Review.
METHODS: We reviewed the 38 cases collected by O'Donnel-Luria et al., adding three cases of a familial heterozygosis novel mutation in KMT2E gene; different degrees of neurological disorder, subtle dysmorphic features, intellectual disability, epilepsy, and various …
METHODS: We reviewed the 38 cases collected by O'Donnel-Luria et al., adding three cases of a familial heterozygosis novel mutation in KMT2E …
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 …
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
Chompoopong P, Milone M. Chompoopong P, et al. Genes (Basel). 2023 Jan 31;14(2):372. doi: 10.3390/genes14020372. Genes (Basel). 2023. PMID: 36833299 Free PMC article. Review.
GMPPB mutations can also lead to the defect of neuromuscular transmission and congenital myasthenic syndrome due to altered glycosylation of the acetylcholine receptor subunits and other synaptic proteins. ...Patients with CMD phenotype often also have structural brain def …
GMPPB mutations can also lead to the defect of neuromuscular transmission and congenital myasthenic syndrome due to altered glycosyla …
Angelman Syndrome: From Mouse Models to Therapy.
Rotaru DC, Mientjes EJ, Elgersma Y. Rotaru DC, et al. Neuroscience. 2020 Oct 1;445:172-189. doi: 10.1016/j.neuroscience.2020.02.017. Epub 2020 Feb 21. Neuroscience. 2020. PMID: 32088294 Free article. Review.
The UBE3A gene is part of the chromosome 15q11-q13 region that is frequently deleted or duplicated, leading to several neurodevelopmental disorders (NDD). Angelman syndrome (AS) is caused by the absence of functional maternally derived UBE3A protein, while the paternal UBE …
The UBE3A gene is part of the chromosome 15q11-q13 region that is frequently deleted or duplicated, leading to several neurodevelopmental di …
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 …
Neuroimaging findings in Pallister-Killian syndrome.
Barkovich EJ, Lateef TM, Whitehead MT. Barkovich EJ, et al. Neuroradiol J. 2018 Aug;31(4):403-411. doi: 10.1177/1971400917744798. Epub 2017 Dec 20. Neuroradiol J. 2018. PMID: 29260614 Free PMC article. Review.
Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR f …
Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well a …
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 …
LETM1 is required for mitochondrial homeostasis and cellular viability (Review).
Li Y, Tran Q, Shrestha R, Piao L, Park S, Park J, Park J. Li Y, et al. Mol Med Rep. 2019 May;19(5):3367-3375. doi: 10.3892/mmr.2019.10041. Epub 2019 Mar 15. Mol Med Rep. 2019. PMID: 30896806 Free PMC article. Review.
Leucine zipper/EF-hand-containing transmembrane protein 1 (LETM1) has been identified as the gene responsible for Wolf-Hirschhorn syndrome (WHS), which is characterized by intellectual disability, epilepsy, growth delay and craniofacial dysgenesis. ...
Leucine zipper/EF-hand-containing transmembrane protein 1 (LETM1) has been identified as the gene responsible for Wolf-Hirschhorn syndrom …
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, …
22 results