Abstract
We have reviewed some of the important studies published within the last 18 months that have advanced our understanding of the epilepsies, their aetiology and treatment. Clinical studies have revealed new insights into old themes including seizure prediction, mortality in epilepsy, febrile seizures and the pathophysiology of focal cortical dysplasias. The rapid advances in genetics and particularly whole exome sequencing have had an impact on our understanding of epileptic encephalopathies, and the aetiology of hippocampal sclerosis. Experimental research techniques such as viral vector gene delivery, optogenetics and cell based transplantation techniques have set the framework for novel approaches to the treatment of pharmacoresistant epilepsy. These few examples are indicative of the great strides that have recently been made in epilepsy research.
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References
Fazel S, Wolf A, Långström N et al (2013) Premature mortality in epilepsy and the role of psychiatric comorbidity: a total population study. Lancet 382:1646–1654. doi:10.1016/S0140-6736(13)60899-5
Ryvlin P, Nashef L, Lhatoo SD et al (2013) Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study. Lancet Neurol 12:966–977. doi:10.1016/S1474-4422(13)70214-X
Tomson T (2000) Mortality in epilepsy. J Neurol 247:15–21
Allen AS, Epi4 K Consortium, Epilepsy Phenome/Genome Project et al (2013) De novo mutations in epileptic encephalopathies. Nature 501:217–221. doi:10.1038/nature12439
Kasperaviciute D, Catarino CB, Matarin M et al (2013) Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain 136:3140–3150. doi:10.1093/brain/awt233
Lewis DV, Shinnar S, Hesdorffer DC et al (2013) Hippocampal sclerosis after febrile status epilepticus: the FEBSTAT study. Ann Neurol. doi:10.1002/ana.24081
Lee H-Y, Huang Y, Bruneau N et al (2012) Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 1:2–12. doi:10.1016/j.celrep.2011.11.001
Becker F, Schubert J, Striano P et al (2013) PRRT2-related disorders: further PKD and ICCA cases and review of the literature. J Neurol 260:1234–1244. doi:10.1007/s00415-012-6777-y
Dale RC, Gardiner A, Antony J, Houlden H (2012) Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol 54:958–960. doi:10.1111/j.1469-8749.2012.04394.x
Gardiner AR, Bhatia KP, Stamelou M et al (2012) PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 79:2115–2121. doi:10.1212/WNL.0b013e3182752c5a
Sheerin U-M, Stamelou M, Charlesworth G et al (2013) Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. J Neurol 260:656–660. doi:10.1007/s00415-012-6747-4
Boesebeck F, Schwarz O, Dohmen B et al (2013) Faciobrachial dystonic seizures arise from cortico-subcortical abnormal brain areas. J Neurol 260:1684–1686. doi:10.1007/s00415-013-6946-7
Chen J, Tsai V, Parker WE et al (2012) Detection of human papillomavirus in human focal cortical dysplasia type IIB. Ann Neurol 72:881–892. doi:10.1002/ana.23795
Liu S, Lu L, Cheng X et al (2013) Viral infection and focal cortical dysplasia. Ann Neurol. doi:10.1002/ana.24037
Paz JT, Davidson TJ, Frechette ES et al (2013) Closed-loop optogenetic control of thalamus as a tool for interrupting seizures after cortical injury. Nat Neurosci 16:64–70. doi:10.1038/nn.3269
Krook-Magnuson E, Armstrong C, Oijala M, Soltesz I (2013) On-demand optogenetic control of spontaneous seizures in temporal lobe epilepsy. Nat Commun 4:1376. doi:10.1038/ncomms2376
Wykes RC, Heeroma JH, Mantoan L et al (2012) Optogenetic and potassium channel gene therapy in a rodent model of focal neocortical epilepsy. Sci Transl Med 4:161ra152. doi:10.1126/scitranslmed.3004190
Hunt RF, Girskis KM, Rubenstein JL et al (2013) GABA progenitors grafted into the adult epileptic brain control seizures and abnormal behavior. Nat Neurosci 16:692–697. doi:10.1038/nn.3392
Cook MJ, O’Brien TJ, Berkovic SF et al (2013) Prediction of seizure likelihood with a long-term, implanted seizure advisory system in patients with drug-resistant epilepsy: a first-in-man study. Lancet Neurol 12:563–571. doi:10.1016/S1474-4422(13)70075-9
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This work was supported by Epilepsy Research UK. This work was undertaken at UCLH/UCL, which receives a proportion of funding from the Department of Health’s NIHR Biomedical Research Centres’ funding scheme.
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Kovac, S., Walker, M.C. Recent advances in epilepsy. J Neurol 261, 837–841 (2014). https://doi.org/10.1007/s00415-014-7294-y
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DOI: https://doi.org/10.1007/s00415-014-7294-y