Hello, colleagues.

I know a family with epileptic phenotype, which looks very similar to Severe Myoclonic Epilepsy of Infancy (so called «Dravet syndrome»). Mother had febrile convulsions in her childhood. Now first (F, 19) and fifth (M, 1) children have relative severe phenotypes, which are similar to each other. Second, third and fourth children are seizure-free, no any problems. They did NGS-genetic test «Epileptic panel» for 200+ genes in fifth child, but nothing interesting was found (at least SCN1A gene was found «normal»). All children are from the same father.

Phenotype shortly: GTCS every 1 — 2 weeks, absences, myoclonus, mental impairment (not very hard), ataxia. First and fifth children have similar phenotypes.

Does anyone interested in carrying out the investigations on this family? They need help in setting the exact diagnosis, but the doctors here in Russia can't make a decision, as well as don't want to make any OMICS-investigations.