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

Year Number of Results
1970 1
1975 9
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1982 34
1983 47
1984 47
1985 47
1986 44
1987 56
1988 62
1989 70
1990 85
1991 73
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1997 133
1998 149
1999 151
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2005 288
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2008 389
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2010 447
2011 593
2012 601
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2014 694
2015 727
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2017 738
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2020 989
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2024 473

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13,481 results

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Quoted phrase not found in phrase index: "Epilepsy, early-onset, with or without developmental delay"
Page 1
Disorders affecting vitamin B6 metabolism.
Wilson MP, Plecko B, Mills PB, Clayton PT. Wilson MP, et al. J Inherit Metab Dis. 2019 Jul;42(4):629-646. doi: 10.1002/jimd.12060. Epub 2019 Mar 20. J Inherit Metab Dis. 2019. PMID: 30671974 Review.
Because of the vital role of PLP in neurotransmitter metabolism, particularly synthesis of the inhibitory transmitter gamma-aminobutyric acid, it is not surprising that various inborn errors leading to PLP deficiency manifest as B(6) -responsive epilepsy, usually of ear …
Because of the vital role of PLP in neurotransmitter metabolism, particularly synthesis of the inhibitory transmitter gamma-aminobutyric aci …
Recent advances in epilepsy genomics and genetic testing.
Hebbar M, Mefford HC. Hebbar M, et al. F1000Res. 2020 Mar 12;9:F1000 Faculty Rev-185. doi: 10.12688/f1000research.21366.1. eCollection 2020. F1000Res. 2020. PMID: 32201576 Free PMC article. Review.
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor progn …
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized …
Poststroke Seizure and Epilepsy: A Review of Incidence, Risk Factors, Diagnosis, Pathophysiology, and Pharmacological Therapies.
Phan J, Ramos M, Soares T, Parmar MS. Phan J, et al. Oxid Med Cell Longev. 2022 Oct 26;2022:7692215. doi: 10.1155/2022/7692215. eCollection 2022. Oxid Med Cell Longev. 2022. PMID: 36338344 Free PMC article. Review.
Stroke is the most common cause of epilepsy and ultimately leads to a decrease in the quality of life of those affected. ...This literature review uncovers a newly found mechanism for the pathology of poststroke epilepsy. The pathogenesis of early-onset …
Stroke is the most common cause of epilepsy and ultimately leads to a decrease in the quality of life of those affected. ...This lite …
Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy.
Aronica E, Specchio N, Luinenburg MJ, Curatolo P. Aronica E, et al. Brain. 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. Brain. 2023. PMID: 36806388 Free PMC article. Review.
Epileptogenesis in infants with tuberous sclerosis complex (TSC) is a gradual and dynamic process, leading to early onset and difficult-to-treat seizures. Several cellular, molecular and pathophysiologic mechanisms, including mammalian target of rapamycin (mTOR) dys …
Epileptogenesis in infants with tuberous sclerosis complex (TSC) is a gradual and dynamic process, leading to early onset and …
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to …
Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies …
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Hum Mutat. 2020. PMID: 31513310 Free article. Review.
Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. Variants in KCNB1 have been recently reported in patients with early-onset DEE. KCNB1 encodes the alpha subunit of the delayed …
Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. Varian …
Epilepsy in Older Persons.
Toniolo S, Romoli M, Sen A. Toniolo S, et al. Neurol Clin. 2022 Nov;40(4):891-905. doi: 10.1016/j.ncl.2022.03.014. Epub 2022 Sep 28. Neurol Clin. 2022. PMID: 36270697 Review.
Epilepsy is most common in older people and yet optimizing the management of seizures in this demographic has often been somewhat overlooked. With populations aging across the world and those with complex early-onset epilepsies thankfully living into l …
Epilepsy is most common in older people and yet optimizing the management of seizures in this demographic has often been somewhat ove …
Epilepsy in Early Onset Alzheimer's Disease.
Haoudy S, Jonveaux T, Puisieux S, Epstein J, Hopes L, Maillard L, Aron O, Tyvaert L. Haoudy S, et al. J Alzheimers Dis. 2022;85(2):615-626. doi: 10.3233/JAD-210681. J Alzheimers Dis. 2022. PMID: 34864663
BACKGROUND: Epilepsy seems to be an important comorbidity in patients with early onset Alzheimer's disease (EOAD). ...The usual follow-up was extended with a 3-h EEG and a consultation with an epilepsy expert. Information on epilepsy and AD were …
BACKGROUND: Epilepsy seems to be an important comorbidity in patients with early onset Alzheimer's disease (EOAD). ...T …
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Thalwitzer KM, et al. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264
DISCUSSION: We expand the spectrum of STXBP1-related disorders and provide clinical features and developmental trajectories in individuals with and without a history of epilepsy. Individuals with epilepsy, in particular epileptic spasms, and neonatal or ea …
DISCUSSION: We expand the spectrum of STXBP1-related disorders and provide clinical features and developmental trajectories in indivi …
Post-stroke epilepsy.
Olsen TS. Olsen TS. Curr Atheroscler Rep. 2001 Jul;3(4):340-4. doi: 10.1007/s11883-001-0029-4. Curr Atheroscler Rep. 2001. PMID: 11389801 Review.
Seizures occur in about 10% of stroke patients. Hence, stroke is the most common cause of seizures and epilepsy in the elderly population. Five percent are early-onset seizures (peak onset within the first day after the stroke) and another 5% are late-onset s …
Seizures occur in about 10% of stroke patients. Hence, stroke is the most common cause of seizures and epilepsy in the elderly popula …
13,481 results
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