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
2005 1
2007 1
2011 3
2012 3
2013 1
2014 1
2017 1
2018 1
2019 3
2022 4
2023 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

21 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 101"
Page 1
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christod… See abstract for full author list ➔ Stephenson SEM, et al. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been shown to regulate …
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. F …
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
Pavone P, Pappalardo XG, Ruggieri M, Falsaperla R, Parano E. Pavone P, et al. Medicine (Baltimore). 2022 Aug 5;101(31):e29413. doi: 10.1097/MD.0000000000029413. Medicine (Baltimore). 2022. PMID: 35945798 Free PMC article. Review.
Alternating Hemiplegia of Childhood (AHC) is a rare disorder with onset in the first 18 months of life characterized by stereotyped paroxysmal manifestations of tonic and dystonic attacks, nystagmus with other oculomotor abnormalities, respiratory and autonomic dysfunctions. AHC …
Alternating Hemiplegia of Childhood (AHC) is a rare disorder with onset in the first 18 months of life characterized by stereotyped paroxysm …
Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus in Children.
Peariso K, Arya R, Glauser T, Abend NS, Barcia Aguilar C, Amengual-Gual M, Anderson A, Appavu BL, Brenton JN, Carpenter J, Chapman KE, Clark J, Gaillard WD, Gaínza-Lein M, Goldstein J, Goodkin H, Grinspan Z, Guerriero RM, Horn PS, Huh L, Kahoud R, Kelley SA, Kossoff EH, Kapur K, Lai YC, Marquis BO, McDonough T, Mikati MA, Morgan L, Novotny E, Ostendorf AP, Payne ET, Piantino J, Riviello J, Sands T, Stafstrom CE, Tasker RC, Tchapyjnikov D, Vasquez A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; for Pediatric Status Epilepticus Research Group (pSERG). Peariso K, et al. Neurology. 2023 Aug 1;101(5):e546-e557. doi: 10.1212/WNL.0000000000207472. Epub 2023 Jun 9. Neurology. 2023. PMID: 37295955
CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that patient and clinical factors may predict RSE in children with convulsive seizures....
CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that patient and clinical factors may predict RSE in children with …
Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.
Kovacevic J, Maroteaux G, Schut D, Loos M, Dubey M, Pitsch J, Remmelink E, Koopmans B, Crowley J, Cornelisse LN, Sullivan PF, Schoch S, Toonen RF, Stiedl O, Verhage M. Kovacevic J, et al. Brain. 2018 May 1;141(5):1350-1374. doi: 10.1093/brain/awy046. Brain. 2018. PMID: 29538625 Free PMC article.
De novo heterozygous mutations in STXBP1/Munc18-1 cause early infantile epileptic encephalopathies (EIEE4, OMIM #612164) characterized by infantile epilepsy, developmental delay, intellectual disability, and can include autistic features. ...Taken toge …
De novo heterozygous mutations in STXBP1/Munc18-1 cause early infantile epileptic encephalopathies (EIEE4, OMIM #612164) chara …
Bone health, intellectual disability and epilepsy: An observational community-based study.
Winterhalder R, McCabe J, Young C, Lamb K, Sawhney I, Jory C, O'Dwyer M, Shankar R. Winterhalder R, et al. Acta Neurol Scand. 2022 Jun;145(6):753-761. doi: 10.1111/ane.13612. Epub 2022 Mar 17. Acta Neurol Scand. 2022. PMID: 35297524 Free PMC article.
OBJECTIVES: Intellectual disability (ID) and epilepsy are independent risk factors for osteoporosis. Diverse predisposing factors influence this, for example in ID, genetics and poor nutrition and in epilepsy, anti-seizure medication (ASM). Around 25% people with ID …
OBJECTIVES: Intellectual disability (ID) and epilepsy are independent risk factors for osteoporosis. Diverse predisposing factors inf …
Long-Term Outcome After Bilateral Perinatal Arterial Ischemic Stroke.
Mineyko A, Kirton A. Mineyko A, et al. Pediatr Neurol. 2019 Dec;101:39-42. doi: 10.1016/j.pediatrneurol.2019.07.013. Epub 2019 Aug 2. Pediatr Neurol. 2019. PMID: 31495662
Outcome measures included the Pediatric Stroke Outcome Measure, Gross Motor Function Classification System, and epilepsy frequency score. Electroencephalographies were reviewed for sleep, epileptiform activity, and background. ...Epilepsy may also be more common tha …
Outcome measures included the Pediatric Stroke Outcome Measure, Gross Motor Function Classification System, and epilepsy frequency sc …
NMR-based metabolomics in pediatric drug resistant epilepsy - preliminary results.
Boguszewicz Ł, Jamroz E, Ciszek M, Emich-Widera E, Kijonka M, Banasik T, Skorupa A, Sokół M. Boguszewicz Ł, et al. Sci Rep. 2019 Oct 21;9(1):15035. doi: 10.1038/s41598-019-51337-z. Sci Rep. 2019. PMID: 31636291 Free PMC article.
Epilepsy in children is the most frequent, heterogeneous and difficult to classify chronic neurologic condition with the etiology found in 35-40% of patients. ...NMR-based metabolomics could provide information on the dynamic metabolic processes in drug-resistant epilep …
Epilepsy in children is the most frequent, heterogeneous and difficult to classify chronic neurologic condition with the etiology fou …
Hemimegalencephaly: A Systematic Comparison of Functional and Anatomic Hemispherectomy for Drug-Resistant Epilepsy.
Goel K, Ghadiyaram A, Krishnakumar A, Morden FTC, Higashihara TJ, Harris WB, Shlobin NA, Wang A, Karunungan K, Dubey A, Phillips HW, Weil AG, Fallah A. Goel K, et al. Neurosurgery. 2024 Apr 1;94(4):666-678. doi: 10.1227/neu.0000000000002759. Epub 2023 Nov 17. Neurosurgery. 2024. PMID: 37975663
BACKGROUND AND OBJECTIVES: Hemimegalencephaly (HME) is a rare diffuse malformation of cortical development characterized by unihemispheric hypertrophy, drug-resistant epilepsy (DRE), hemiparesis, and developmental delay. Definitive treatment for HME-related DRE is h …
BACKGROUND AND OBJECTIVES: Hemimegalencephaly (HME) is a rare diffuse malformation of cortical development characterized by unihemispheric h …
Long-term outcome in children with infantile spasms treated with vigabatrin: a cohort of 180 patients.
Djuric M, Kravljanac R, Tadic B, Mrlješ-Popovic N, Appleton RE. Djuric M, et al. Epilepsia. 2014 Dec;55(12):1918-25. doi: 10.1111/epi.12847. Epub 2014 Nov 6. Epilepsia. 2014. PMID: 25377998 Free article.
Seizure outcomes were followed prospectively, by seizure types and epilepsy syndromes. Long-term (secondary) outcomes included neurologic status, occurrence of late epilepsy, and developmental/cognitive status. ...Idiopathic patients treated with vigabatrin w …
Seizure outcomes were followed prospectively, by seizure types and epilepsy syndromes. Long-term (secondary) outcomes included neurol …
Long-term cognitive outcomes after pediatric stroke.
Kolk A, Ennok M, Laugesaar R, Kaldoja ML, Talvik T. Kolk A, et al. Pediatr Neurol. 2011 Feb;44(2):101-9. doi: 10.1016/j.pediatrneurol.2010.08.012. Pediatr Neurol. 2011. PMID: 21215909
Twenty-one children with neonatal (mean age, 6.86 years) and 10 children with childhood (mean age, 8.21 years) strokes, identified via the Estonian Pediatric Stroke Database (1995-2006), participated. A developmental neuropsychologic assessment was used for neurocognitive …
Twenty-one children with neonatal (mean age, 6.86 years) and 10 children with childhood (mean age, 8.21 years) strokes, identified via the E …
21 results