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Son has DEE-SWAS epilepsy, heart rate spikes & genetic mutation

Epilepsy & Seizures | Last Active: Jun 5 1:34pm | Replies (27)
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@colleenyoung

@happyccl8, me again. As you prepare your questions, I thought you might appreciate this information:
- Developmental/Epileptic Encephalopathy with Spike Wave Activation In Sleep (DEE-SWAS) https://www.epilepsy.com/what-is-epilepsy/syndromes/dee-swas
- 2q37 deletion syndrome https://www.rarechromo.org/media/information/Chromosome%20%202/2q37%20deletion%20syndrome%20FTNW.pdf

I'm sure you've seen this info already, but just in case you hadn't, I thought I'd send them.

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happyccl8 | @happyccl8 | May 12 11:19pm

My son has four HDAC4, MAP4K5, UNC13D, CARD14- no deletions but missenses and frameshift. I haven’t begun my questions as I’m trying to do my research and make sure I have all the terms and concepts right. Wished I paid attention more in my genetics class back in the 90s at CAL. Sigh

I believe I will be seeing genetics online first before we even leave for Mayo Clinic

Then I believe we see immunology and neurology next. Has MRI, short egg and over night eeg. Maybe an ecg which might be a heart test idk.
Be there for a whole week.
Any ideas what questions to ask?

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