Roman Dushkin

• Master of Technology
• Senior Lecturer at National Research Nuclear University MEPhI

Hello, dear friends.

I have a patient (boy, 6 years old) with a severe epileptic syndrome, which leads to the seizures with tendency to status epilepticus. I observe him for a long time, and I've noticed one interesting phenomenon. After the severest seizures, which end in emergency service, his physical and mental development goes up exponentially.

For example. A week ago he tried to learn to write the cyrillic letter D (see the image 1; the uper inscriptions are the examples). Very poor. Then was the severe seizure, and he didn't try the exercises at all for a week, and today he has taken the paper and written the letter at his own initiative. Now it looks like very good inscription of prescholar (see the image 2).

Other example. A week ago he tried to read, but couldn't understand how to prononce syllables. And today he amazed his parents as he started to prononce good syllables of Consonant-Vowel pattern. It looks like the new grammatical rule arose in his neuronets.

And there are lots of other examples of such behaviour from the beginning of his illness. Not only this particular case. What could be the reason of this? Could you please give me some clues or link what to read on this theme? Thank you.

Hello, dear colleagues.

I have a patient (6 y. o. boy) with strange clinic manifestations. Almost every day near 11:00 am he begin to act very slowly. The consciousness is not affected, it seems that everything is normal with him, but he talks and acts very slowly. It looks like he is drunk, but of course he isn't. And it seems that he himself doesn't recogniza his strange state. After 40 — 60 minutes he abruptly returns to his usual behaviour. Really quick and abruptly: at 11:59 he is slow and at 12:00 he is normal.

What could it be? Something connected with some circadian hormone level? Something neurological? Arterial blood pressure?

Thanks for any ideas.

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.

Hello, colleagues.

I observe several patients with SCN1A channelopathies, and among them there are 4 children of the same age and with birth dates in the interval of 2 weeks. Today they are about 5.5 years old. Interest is that all these four children are very high — they exceed the average height of their age by 10 — 20 cm, ranging from 122 to 135 cm. What could be the reason for this?

1. Everyone has this or that mutation in the gene SCN1A.

2. Everyone had a history or is taking the VPA now.

3. Everyone's parents are of average height.

I assume that the mutation has nothing to do with the growth. Perhaps this is the VPA. Perhaps some other factor. Who can say anything?