Latest American and European Updates on Infantile Spasms
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Neuroscience
Link
http://link.springer.com/content/pdf/10.1007/s11910-012-0334-z.pdf
Reference64 articles.
1. •• Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia. 2010;51:676–85. This is a further initiative by the ILAE Commission on Classification and Terminology to develop concepts, definitions, clear terminology, and an overall classification and structure for the clinical management and design of studies for epilepsies.
2. Caraballo RH, Ruggieri V, Gonzalez G, Cersósimo R, Gamboni B, Rey A, et al. Infantile spasms without hypsarrhythmia: a study of 16 cases. Seizure. 2011;20:197–202.
3. •• Paciorkowski AR, Thio LL, Dobyns WB. Genetic and biologic classification of infantile spasms. Pediatr Neurol. 2011;45:355–67. This is a thorough and thoughtful review of genetic causes of infantile spasms, outlining how many of the newer genetic diagnoses are linked to key pathways of development in the central nervous system. This article also suggests models that might explain the pathogenesis of infantile spasms, with some emphasis on GABAergic gene regulation in the developing forebrain and abnormal expression of genes controlling synaptic molecules.
4. Adachi M, Abe Y, Aoki Y, Matsubara Y. Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review. Seizure. 2012;21:55–60.
5. Mignot C, Moutard ML, Trouillard O, Gourfinkel-An I, Jacquette A, Arveiler B, et al. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia. 2011;52:1820–7.
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