Sept.7.2011 Email from Dr.Joshi over Aliyah's genetic results/tests

Hello Lizette and Sean,

I hope all is well and Aliyah continues to make progress.

I have now received almost all the results for the tests recently sent.

All are negative so far.

These are as follows:

Chromosomal assay- negative for ring 20

CMA pending.

CSF negative for GLUT1 DS

CSF- normal amino acids, low HVA, other metabolites normal, no evidence of folinic acid responsive seizures

Urine- normal pipecolic acid

Urine organic acids no pattern specific for disease

SCN1A- negative for deletions/ duplications

Rett syndrome sequencing- negative

MERFF- ( myoclonic epilepsy ragged red fibre testing sent to Athena) negative.- mutations for MERRF 8244;8356;8363;8296

Redox panel- negative

CSF lactate and pyruvate- normal

Normal pyridoxal 5’ phosphate in CSF

CDKL5- pending

I think at this time, I would wait to see her response before commencing on more testing as any more testing now will be invasive ( muscle biopsy for example) and she is looking like she has cryptogenic spasms.

Have great day!

Charuta Joshi MBBS, FRCPC

Clinical Associate Professor

Division of Pediatric Neurology

2506 JCP, UIHC

200 Hawkins Drive

Iowa City 52242