By Antonio V. Delgado-Escueta, Renzo Guerrini MD, Marco T. Medina MD, Pierre Genton MD, Michelle Bureau MD, Charlotte Dravet MD
This quantity is the 1st complete textual content and scientific reference on idiopathic myoclonic epilepsies of infancy, formative years, youth, and maturity. The world’s leading specialists describe the phenotypes and subtypes of myoclonic epilepsies and the underlying molecular defects and summarize state-of-the-art advances in molecular genetics that shed new gentle at the etiologies of those syndromes.
The ebook bargains clinicians much-needed tips in spotting and diagnosing idiopathic myoclonic epilepsies and choosing applicable therapy. each one bankruptcy comprises diagnostic and therapy algorithms to steer practitioners in scientific choice making.
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Additional info for Myoclonic epilepsies
1 yrs onset Range, 11 months–12 yrs Range, 2–14 yrs Range, 1–11 yrs Range, 7–28 yrs M>F F>M F>M 69% : 31% 80% : 20% 64% : 36% Sex F (55%) = M (45%) Positive in 49%. Family history Positive in 20% Positive in 28% Positive in 72%. 17% of relatives are Male and female family asymptomatic and have members equally 4–6-Hz polyspike-waves affected. or spike-waves (F > M at More maternal 2:1). Maternal equal to transmission (2:1) paternal transmission Partial response to sodium Pure myoclonic absence (38%): valproate (VPA) and other favorable response to treatment and AEDs in 80% with frequent remission.
This is compatible with corticomotoneuronal conduction. The N20–P30 and P30–N35 components of the SEPs have significantly increased amplitude. In addition, the latency of the N20 component is delayed and the N20–P30–N35 interval is significantly increased and has expanded morphology. The latency between electric stimulation (median nerve) and onset of reflex myoclonus is 65 ± 5 msec when the recording is made from the abductor pollicis brevis (APB) muscle. Topographic mapping of the SEP voltage shows, for the P30 component, a field distribution very similar to that of the premyoclonic potential.
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