We are Peter and Maria Curgaly family from Slovakia. We have 3 daughters: Hanah (9 yo), Lenka (7 yo) and last one – LUCIA is 4 years old. Lucia was born 5th June 2013, 4030g/53cm.
From first day spasm presence upper and lower limbs. Feeding with nasal gastrict tube, from 4th month implemented PEG gastronomy tube.
Diagnostic conclusion: Epileptic encephalopathy with mutation DNM1
*Symptomatic epileptic seizures of generalized myoclonus and multifocal myoclonus DNM1
*Mental retardation disorder
From October 2016 we received analyse from http://diabgene.sk about DMN1 mutation. She still sleeping, about 20 hours per day. When open eyes she can’t register all object. She doesn’t have any energy to move herself.
From drugs we using Keppra, Convulex, Frisium, Coenzym Q10, B-Complex…
Lucia is our sleeping princess…
Thank you for your help and support.
DNM1 genetic mutation 