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

Year Number of Results
1995 1
2000 2
2004 1
2010 2
2011 1
2012 1
2014 2
2015 2
2016 1
2017 3
2018 2
2020 1
2021 2
2022 1
2023 11
2024 3

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31 results

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Page 1
The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Cox DM, Butler MG. Cox DM, et al. Int J Mol Sci. 2015 Feb 13;16(2):4068-82. doi: 10.3390/ijms16024068. Int J Mol Sci. 2015. PMID: 25689425 Free PMC article. Review.
Patients with the 15q11.2 BP1-BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and psychiatric problems. ...Review of clinical features from about 200 individuals were grouped into five categories and included development
Patients with the 15q11.2 BP1-BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and p …
Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children.
McTague A, Martland T, Appleton R. McTague A, et al. Cochrane Database Syst Rev. 2018 Jan 10;1(1):CD001905. doi: 10.1002/14651858.CD001905.pub3. Cochrane Database Syst Rev. 2018. PMID: 29320603 Free PMC article. Review.
SEARCH METHODS: For the latest update we searched the Cochrane Epilepsy Group's Specialised Register (23 May 2017), the Cochrane Central Register of Controlled Trials (CENTRAL) via the Cochrane Register of Studies Online (CRSO, 23 May 2017), MEDLINE (Ovid, 1946 to 23 May 2 …
SEARCH METHODS: For the latest update we searched the Cochrane Epilepsy Group's Specialised Register (23 May 2017), the Cochrane Cent …
The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.
Whitney R, Jain P, RamachandranNair R, Jones KC, Kiani H, Tarnopolsky M, Meaney B. Whitney R, et al. Epilepsia Open. 2023 Jun;8(2):623-632. doi: 10.1002/epi4.12747. Epub 2023 Apr 24. Epilepsia Open. 2023. PMID: 37067065 Free PMC article. Review.
OBJECTIVE: ST3GAL3-related developmental and epileptic encephalopathy (DEE-15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy. ...Epil
OBJECTIVE: ST3GAL3-related developmental and epileptic encephalopathy (DEE-15) is an autosomal recessive condition char …
Scoping review and expert-based consensus recommendations for assessment and management of psychogenic non-epileptic (functional) seizures (PNES) in children: A report from the Pediatric Psychiatric Issues Task Force of the International League Against Epilepsy.
Reilly C, Jette N, Johnson EC, Kariuki SM, Meredith F, Wirrell E, Mula M, Smith ML, Walsh S, Fong CY, Wilmshurst JM, Kerr M, Valente K, Auvin S. Reilly C, et al. Epilepsia. 2023 Dec;64(12):3160-3195. doi: 10.1111/epi.17768. Epub 2023 Oct 7. Epilepsia. 2023. PMID: 37804168 Review.
Limited guidance exists regarding the assessment and management of psychogenic non-epileptic seizures (PNES) in children. Our aim was to develop consensus-based recommendations to fill this gap. ...Consensus was defined as 80% agreement. The systematic search identified 77 …
Limited guidance exists regarding the assessment and management of psychogenic non-epileptic seizures (PNES) in children. Our aim was …
Corpus callosum and epilepsies.
Unterberger I, Bauer R, Walser G, Bauer G. Unterberger I, et al. Seizure. 2016 Apr;37:55-60. doi: 10.1016/j.seizure.2016.02.012. Epub 2016 Mar 3. Seizure. 2016. PMID: 27010176 Free article. Review.
This review focuses on the significance of CC for seizure disorders, the role of CC in seizure spread and the surgical disruption of callosal fibers (callosotomy) for treatment of patients with drug-resistant epilepsy. METHODS: Personal experience/extensive literature revi …
This review focuses on the significance of CC for seizure disorders, the role of CC in seizure spread and the surgical disruption of callosa …
Encephalopathy related to status epilepticus during slow sleep (ESES). Pathophysiological insights and nosological considerations.
Rubboli G, Gardella E, Cantalupo G, Alberto Tassinari C. Rubboli G, et al. Epilepsy Behav. 2023 Mar;140:109105. doi: 10.1016/j.yebeh.2023.109105. Epub 2023 Feb 7. Epilepsy Behav. 2023. PMID: 36758358 Review.
Encephalopathy related to Status Epilepticus during slow Sleep (ESES) is a childhood epilepsy syndrome characterized by the appearance of cognitive, behavioral, and motor disturbances in conjunction with a striking activation of EEG epileptic abnormalities du
Encephalopathy related to Status Epilepticus during slow Sleep (ESES) is a childhood epilepsy syndrome characterized by the ap
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschutter-Tonz syndrome.
Schossig A, Wolf NI, Kapferer I, Kohlschütter A, Zschocke J. Schossig A, et al. Eur J Med Genet. 2012 May;55(5):319-22. doi: 10.1016/j.ejmg.2012.02.008. Epub 2012 Mar 28. Eur J Med Genet. 2012. PMID: 22522085 Review.
Kohlschutter-Tonz syndrome is a rare genetic disorder with epilepsy, psychomotor regression, and a severe enamel defect with yellow or brownish discoloration of the teeth. The first affected family was described in 1974, and 25 patients in 11 families have been reported un …
Kohlschutter-Tonz syndrome is a rare genetic disorder with epilepsy, psychomotor regression, and a severe enamel defect with yellow o …
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T, Yin F, Guang S, He F, Yang L, Peng J. Wu T, et al. Orphanet J Rare Dis. 2020 May 28;15(1):129. doi: 10.1186/s13023-020-01401-z. Orphanet J Rare Dis. 2020. PMID: 32466763 Free PMC article. Review.
Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies associated with a wide range of additional features (hypotonia, hear …
Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/intellectual disa …
The influence of disease course and surgery on quality of life in children with focal cortical dysplasia and long-term epilepsy-associated tumours: A systematic review and meta-analysis.
Vasilica AM, Winsor A, Chari A, Scott R, Baldeweg T, Tisdall M. Vasilica AM, et al. Epilepsy Res. 2023 May;192:107132. doi: 10.1016/j.eplepsyres.2023.107132. Epub 2023 Mar 30. Epilepsy Res. 2023. PMID: 37023554 Free article. Review.
INTRODUCTION: Carefully selected patients with lesional epilepsy, including focal cortical dysplasia (FCD) and long-term epilepsy-associated tumours (LEAT), can benefit from epilepsy surgery. ...Age at epilepsy surgery, type of surgery and epilepsy
INTRODUCTION: Carefully selected patients with lesional epilepsy, including focal cortical dysplasia (FCD) and long-term epilepsy
Dyke-Davidoff-Masson Syndrome: Main clinical and radiological findings- systematic literature review.
Rondão MBA, Hsu BRRHS, Centeno RS, de Aguiar PHP. Rondão MBA, et al. Seizure. 2023 Aug;110:58-68. doi: 10.1016/j.seizure.2023.04.020. Epub 2023 Jun 3. Seizure. 2023. PMID: 37327751 Review.
RESULTS: The mean age of the patients was 19.44 (0-83 years), and the majority were male (55.32%). The most common types of epileptic seizures were generalised tonic-clonic seizures (31 cases), focal impaired awareness seizures (20 cases), focal motor seizures (13 c …
RESULTS: The mean age of the patients was 19.44 (0-83 years), and the majority were male (55.32%). The most common types of epilep
31 results