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

Year Number of Results
2006 1
2007 2
2008 3
2010 1
2011 1
2012 3
2013 7
2014 2
2015 1
2016 2
2018 2
2020 1
2022 2
2023 2
2024 0

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27 results

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Page 1
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. Vezyroglou A, et al. Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18. Neurology. 2022. PMID: 36192182 Free PMC article. Review.
METHODS: Undiagnosed individuals with ATP1A3 variants were identified within the cohort of the Deciphering Developmental Disorders study with additional cases contributed by collaborators internationally. ...Permanent neurologic features were common including microcephaly …
METHODS: Undiagnosed individuals with ATP1A3 variants were identified within the cohort of the Deciphering Developmental Disorders st …
Dravet syndrome: A systematic literature review of the illness burden.
Strzelczyk A, Lagae L, Wilmshurst JM, Brunklaus A, Striano P, Rosenow F, Schubert-Bast S. Strzelczyk A, et al. Epilepsia Open. 2023 Dec;8(4):1256-1270. doi: 10.1002/epi4.12832. Epub 2023 Oct 11. Epilepsia Open. 2023. PMID: 37750463 Free PMC article. Review.
We performed a systematic literature review and narrative synthesis according to a pre-registered protocol (Prospero: CRD42022376561) to identify the evidence associated with the burden of illness in Dravet syndrome (DS), a developmental and epileptic encephalopa
We performed a systematic literature review and narrative synthesis according to a pre-registered protocol (Prospero: CRD42022376561) to ide …
Pathophysiology of epileptic encephalopathies.
Lado FA, Rubboli G, Capovilla G, Avanzini G, Moshé SL. Lado FA, et al. Epilepsia. 2013 Nov;54 Suppl 8(0 8):6-13. doi: 10.1111/epi.12417. Epilepsia. 2013. PMID: 24571111 Free PMC article. Review.
The application of metabolic imaging and genetic analysis, and now the development of appropriate animal models, has generated critical insights into the pathogenesis of epileptic encephalopathies. In this article we present ideas intended to move from the lesions a …
The application of metabolic imaging and genetic analysis, and now the development of appropriate animal models, has generated critical insi …
Therapeutic advances in Dravet syndrome: a targeted literature review.
Strzelczyk A, Schubert-Bast S. Strzelczyk A, et al. Expert Rev Neurother. 2020 Oct;20(10):1065-1079. doi: 10.1080/14737175.2020.1801423. Epub 2020 Aug 16. Expert Rev Neurother. 2020. PMID: 32799683 Review.
INTRODUCTION: Dravet syndrome (DS), a prototypic developmental and genetic epileptic encephalopathy (DEE), is characterized by an early onset of treatment-refractory seizures, together with impairments in motor control, behavior, and cognition. Even with mult …
INTRODUCTION: Dravet syndrome (DS), a prototypic developmental and genetic epileptic encephalopathy (DEE), is character …
Therapeutic approach to epileptic encephalopathies.
Vigevano F, Arzimanoglou A, Plouin P, Specchio N. Vigevano F, et al. Epilepsia. 2013 Nov;54 Suppl 8:45-50. doi: 10.1111/epi.12423. Epilepsia. 2013. PMID: 24571117 Free article. Review.
Epileptic encephalopathies (EEs) are electroclinical entities with a peculiar course of disease; seizures and electroencephalographic (EEG) epileptiform abnormalities, ictal and interictal, contribute to progressive disturbance of cerebral functions. ...The main goa
Epileptic encephalopathies (EEs) are electroclinical entities with a peculiar course of disease; seizures and electroencephalo
Benign and severe early-life seizures: a round in the first year of life.
Pavone P, Corsello G, Ruggieri M, Marino S, Marino S, Falsaperla R. Pavone P, et al. Ital J Pediatr. 2018 May 15;44(1):54. doi: 10.1186/s13052-018-0491-z. Ital J Pediatr. 2018. PMID: 29764460 Free PMC article. Review.
Seizure disorders starting in early life include the "epileptic encephalopathies", a group of conditions characterized by drug resistant seizures, delayed developmental skills, and intellective disability. This group of disorders includes early infantile e
Seizure disorders starting in early life include the "epileptic encephalopathies", a group of conditions characterized by drug …
Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Matricardi S, Cestèle S, Trivisano M, Kassabian B, Leroudier N, Vittorini R, Nosadini M, Cesaroni E, Siliquini S, Marinaccio C, Longaretti F, Podestà B, Operto FF, Luisi C, Sartori S, Boniver C, Specchio N, Vigevano F, Marini C, Mantegazza M. Matricardi S, et al. Epilepsia. 2023 May;64(5):1331-1347. doi: 10.1111/epi.17509. Epub 2023 Jan 26. Epilepsia. 2023. PMID: 36636894 Review.
OBJECTIVE: This study was undertaken to refine the spectrum of SCN1A epileptic disorders other than Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+) and optimize antiseizure management by correlating phenotype-genotype relationship and fu …
OBJECTIVE: This study was undertaken to refine the spectrum of SCN1A epileptic disorders other than Dravet syndrome (DS) and genetic …
Epilepsy-related clinical characteristics and mortality: a systematic review and meta-analysis.
Nevalainen O, Ansakorpi H, Simola M, Raitanen J, Isojärvi J, Artama M, Auvinen A. Nevalainen O, et al. Neurology. 2014 Nov 18;83(21):1968-77. doi: 10.1212/WNL.0000000000001005. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339211 Review.
Among incident cases, idiopathic epilepsies did not associate with materially increased mortality (1.29, 0.75-2.20; 4 studies), whereas mortality was almost twofold in cryptogenic epilepsy (1.75, 1.20-2.54; 5 studies), and highly elevated in patients with symptomati …
Among incident cases, idiopathic epilepsies did not associate with materially increased mortality (1.29, 0.75-2.20; 4 studies), whereas mort …
Developmental tumors and adjacent cortical dysplasia: single or dual pathology?
Palmini A, Paglioli E, Silva VD. Palmini A, et al. Epilepsia. 2013 Dec;54 Suppl 9:18-24. doi: 10.1111/epi.12438. Epilepsia. 2013. PMID: 24328867 Free article. Review.
Developmental tumors often lead to refractory partial seizures and constitute a well-defined, surgically remediable epilepsy syndrome. ...In addition to the possibility of representing dual pathology, the association of developmental tumors and adjacent dyspl
Developmental tumors often lead to refractory partial seizures and constitute a well-defined, surgically remediable epilepsy s
Inborn errors of creatine metabolism and epilepsy.
Leuzzi V, Mastrangelo M, Battini R, Cioni G. Leuzzi V, et al. Epilepsia. 2013 Feb;54(2):217-27. doi: 10.1111/epi.12020. Epub 2012 Nov 13. Epilepsia. 2013. PMID: 23157605 Free article. Review.
GAMT deficiency results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, drug-resistant seizures, movement disorders, mental disability, and autistic-like behavior. ...Blood guanidinoacetic acid (GAA) assessment and …
GAMT deficiency results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, dr …
27 results