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

Year Number of Results
1990 1
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1996 1
1997 1
2000 3
2001 1
2004 1
2005 1
2006 2
2019 1
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14 results

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Page 1
The phenotypic spectrum of SCN2A-related epilepsy.
Reynolds C, King MD, Gorman KM. Reynolds C, et al. Eur J Paediatr Neurol. 2020 Jan;24:117-122. doi: 10.1016/j.ejpn.2019.12.016. Epub 2019 Dec 12. Eur J Paediatr Neurol. 2020. PMID: 31924505 Review.
Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathies, benign familial neonatal-infantile seizures, episodic ataxia, and autism spectrum disorder and intellectual …
Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathi …
Benign familial infantile seizures.
Vigevano F. Vigevano F. Brain Dev. 2005 Apr;27(3):172-7. doi: 10.1016/j.braindev.2003.12.012. Brain Dev. 2005. PMID: 15737697 Review.
In the last ILAE proposal of Classification of Epilepsy Syndromes this entity is called benign familial infantile seizures. Benign infantile seizures are divided now into familial and non-familial forms, although the …
In the last ILAE proposal of Classification of Epilepsy Syndromes this entity is called benign familial infantile se …
Epilepsy syndromes in infancy.
Korff CM, Nordli DR Jr. Korff CM, et al. Pediatr Neurol. 2006 Apr;34(4):253-63. doi: 10.1016/j.pediatrneurol.2005.08.005. Pediatr Neurol. 2006. PMID: 16638498 Review.
An increasing number of infantile epilepsy syndromes have been recognized. However, a significant number of infants (children aged 1-24 months) do not fit in any of the currently used subcategories. This article reviews the clinical presentation, electroencephalographic fi …
An increasing number of infantile epilepsy syndromes have been recognized. However, a significant number of infants (children aged 1- …
Epilepsy in children.
Arnold ST, Dodson WE. Arnold ST, et al. Baillieres Clin Neurol. 1996 Dec;5(4):783-802. Baillieres Clin Neurol. 1996. PMID: 9068881 Review.
The most common seizure type encountered in children is febrile seizures. These represent a benign condition which is not, in fact, epilepsy and usually does not require antiepileptic medication. When partial seizures occur in childhood, benign …
The most common seizure type encountered in children is febrile seizures. These represent a benign condition which is n …
Pathophysiology of epilepsy.
Engelborghs S, D'Hooge R, De Deyn PP. Engelborghs S, et al. Acta Neurol Belg. 2000 Dec;100(4):201-13. Acta Neurol Belg. 2000. PMID: 11233674 Review.
Recently, gene defects underlying four monogenic epilepsies (generalized epilepsy with febrile seizures, autosomal dominant nocturnal frontal lobe epilepsy, benign familial neonatal convulsions and episodic ataxia type 1 with partial seizures) have bee …
Recently, gene defects underlying four monogenic epilepsies (generalized epilepsy with febrile seizures, autosomal dominant nocturnal …
The spectrum of benign infantile seizures.
Specchio N, Vigevano F. Specchio N, et al. Epilepsy Res. 2006 Aug;70 Suppl 1:S156-67. doi: 10.1016/j.eplepsyres.2006.01.018. Epub 2006 Jul 11. Epilepsy Res. 2006. PMID: 16837167 Review.
To define this condition, he coined the term "benign familial infantile seizures" (BFIS). Afterwards, studying families with this phenotype, loci on chromosomes 19, 16 and 2 responsible for BFIS were detected. ...In most recent years a new form …
To define this condition, he coined the term "benign familial infantile seizures" (BFIS). Afterwards, studying …
ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy.
Millevert C, Weckhuysen S; ILAE Genetics Commission. Millevert C, et al. Epileptic Disord. 2023 Aug;25(4):445-453. doi: 10.1002/epd2.20026. Epub 2023 Jun 22. Epileptic Disord. 2023. PMID: 36939707 Review.
The self-limited (familial) epilepsies with onset in neonates or infants, formerly called benign familial neonatal and/or infantile epilepsies, are autosomal dominant disorders characterized by neonatal- or infantile-onset focal motor seizure …
The self-limited (familial) epilepsies with onset in neonates or infants, formerly called benign familial neonatal and/ …
Epilepsies with single gene inheritance.
Berkovic SF, Scheffer IE. Berkovic SF, et al. Brain Dev. 1997 Jan;19(1):13-8. doi: 10.1016/s0387-7604(96)00060-5. Brain Dev. 1997. PMID: 9071484 Review.
Gene identification has been achieved in a number of these conditions but these important advances have not yet led to a better understanding of epileptogenesis, because of the associated brain disease. Idiopathic single gene epilepsies include benign familial neona …
Gene identification has been achieved in a number of these conditions but these important advances have not yet led to a better understandin …
Disorders of membrane channels or channelopathies.
Celesia GG. Celesia GG. Clin Neurophysiol. 2001 Jan;112(1):2-18. doi: 10.1016/s1388-2457(00)00496-x. Clin Neurophysiol. 2001. PMID: 11137655 Review.
The following inherited channelopathies are described. (1) Sodium channelopathies: familial generalized epilepsy with febrile seizures plus, hyperkalemic periodic paralysis, paramyotonias, hypokalemic periodic paralysis; (2) potassium channelopathies: benign …
The following inherited channelopathies are described. (1) Sodium channelopathies: familial generalized epilepsy with febrile seiz …
Neonatal seizures: early-onset seizure syndromes and their consequences for development.
Mizrahi EM, Clancy RR. Mizrahi EM, et al. Ment Retard Dev Disabil Res Rev. 2000;6(4):229-41. doi: 10.1002/1098-2779(2000)6:4<229::AID-MRDD2>3.0.CO;2-Y. Ment Retard Dev Disabil Res Rev. 2000. PMID: 11107188 Review.
The determination of the developmental consequences of seizure syndromes in the neonate is based upon a number of factors which include: understanding of the clinical and electroencephalographic (EEG) features of neonatal seizures; current theories of the mechanisms …
The determination of the developmental consequences of seizure syndromes in the neonate is based upon a number of factors which inclu …
14 results