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Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Multiple other phenotypes: Alternating hemiplegia of childhood.Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS).Relapsing encephalopathy with cerebellar ataxia (RECA).
How close is ketamine to routine use in refractory status epilepticus?
Published in Expert Review of Neurotherapeutics, 2020
Yin Yan, Xiaoyan Peng, Wei Jing, Xuefeng Wang
In recent years, ketamine has gradually been used in RSE patients with special etiologies and has achieved good outcomes [7,8]. Anti-NMDAR encephalitis is an autoimmune disease related to the production of antibodies to the NR1 and NR2 subunits of the NMDARs. Most patients have epilepsy seizures and always have RSE new onset, which is difficult to control. Santoro et al. [15] reported that three anti-NMDAR encephalitis cases with SRSE that were successfully treated with ketamine, and the clinical seizure and abnormal discharge on electroencephalogram (EEG) completely disappeared within 48 hours. Alternating hemiplegia of childhood (AHC) is a rare congenital disease and is prone to RSE. Samanta et al. [7] reported two cases of molecularly confirmed AHC patients, both of whom presented with SRSE; a variety of antiepileptic drugs were ineffective, including midazolam and propofol infusion, but they responded promptly after ketamine infusion.
Personalized treatment in the epilepsies: challenges and opportunities
Published in Expert Review of Precision Medicine and Drug Development, 2018
Simona Balestrini, Sanjay M Sisodiya
In another genetically homogeneous condition, alternating hemiplegia of childhood, we found symptomatic and asymptomatic fluctuations in motor cortex excitability [101], not seen in controls, suggesting that instability of excitability underlies hemiplegic attacks, linking altered function of mutant ATP1A3 to clinical manifestation, and suggesting that stabilization of membrane excitability might be a therapeutic option. These represent examples of ‘precision physiology,’ where deep phenotypic analysis may provide a better understanding of the system biology, possibly including the supramolecular mechanisms bridging single gene defects to neurophysiological dysfunction of brain circuits [82]. Indeed, neurophysiological studies enable correlation of the dysfunction at the cellular level with alterations at the brain dynamics level and demonstration of how local perturbations associated with susceptibility or disease-conferring variants converge into pathogenetic pathways and finally culminate in abnormal phenotypes.