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

Text availability

Article attribute

Article type

Publication date

Search Results

33 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
Miceli F, Millevert C, Soldovieri MV, Mosca I, Ambrosino P, Carotenuto L, Schrader D, Lee HK, Riviello J, Hong W, Risen S, Emrick L, Amin H, Ville D, Edery P, de Bellescize J, Michaud V, Van-Gils J, Goizet C, Willemsen MH, Kleefstra T, Møller RS, Bayat A, Devinsky O, Sands T, Korenke GC, Kluger G, Mefford HC, Brilstra E, Lesca G, Milh M, Cooper EC, Taglialatela M, Weckhuysen S. Miceli F, et al. Among authors: risen s. EBioMedicine. 2022 Jul;81:104130. doi: 10.1016/j.ebiom.2022.104130. Epub 2022 Jun 30. EBioMedicine. 2022. PMID: 35780567 Free PMC article.
Fulminant Anti-Myelin Oligodendrocyte Glycoprotein-Associated Cerebral Cortical Encephalitis: Case Series of a Severe Pediatric Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Phenotype.
Kannan V, Sandweiss AJ, Erickson TA, Yarimi JM, Ankar A, Hardwick VA, Shukla NM, Lotze TE, Risen SR, Riviello JJ, Lai YC, Moeller KK, Fisher K. Kannan V, et al. Among authors: risen sr. Pediatr Neurol. 2023 Oct;147:36-43. doi: 10.1016/j.pediatrneurol.2023.07.002. Epub 2023 Jul 11. Pediatr Neurol. 2023. PMID: 37544084
Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.
Jimenez-Gomez A, Niu S, Andujar-Perez F, McQuade EA, Balasa A, Huss D, Coorg R, Quach M, Vinson S, Risen S, Holder JL Jr. Jimenez-Gomez A, et al. Among authors: risen s. J Neurodev Disord. 2019 Aug 8;11(1):18. doi: 10.1186/s11689-019-9276-y. J Neurodev Disord. 2019. PMID: 31395010 Free PMC article.
An unusual presentation of juvenile Alexander disease.
Osorio MJ, Risen S, Alper G. Osorio MJ, et al. Among authors: risen s. J Child Neurol. 2012 Apr;27(4):507-10. doi: 10.1177/0883073811419263. Epub 2011 Sep 21. J Child Neurol. 2012. PMID: 21940697
A 15-Year-Old Boy With Refractory Status Epilepticus.
Shukla NM, Risen S. Shukla NM, et al. Among authors: risen s. Semin Pediatr Neurol. 2018 Jul;26:101-103. doi: 10.1016/j.spen.2017.05.003. Epub 2017 Jun 12. Semin Pediatr Neurol. 2018. PMID: 29961495
Infant Botulism With Asymmetric Cranial Nerve Palsies.
Lyons-Warren AM, Risen SR, Clark G. Lyons-Warren AM, et al. Pediatr Neurol. 2019 Mar;92:71-72. doi: 10.1016/j.pediatrneurol.2018.11.016. Epub 2018 Nov 30. Pediatr Neurol. 2019. PMID: 30639248 No abstract available.
33 results