The boy has intractable epilepsy. He can not walk, crawl, speak. He does have different sounds and has involuntary movements of the hands.
He have his hands in his mouth a lot. He has done several MRIs and lumbar punctures and also muscle biopsy, but all looks good.
He was born normally and developed normally until the age of 6-7 months.
At the age of 11 months he started to scream for 5 months. Later the epilepsy was discovered.
Symptoms / Signs
- Intractable Epilepsy
- Ketogenic diet
- Different Epilepsy medications
Previously Considered Diagnoses
- Atypical Rett syndrome
Genetic Variants of Interest
- Ongoing investigation - but nothing found yet
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