GLUT1 or mito?
Looking for insights - five year old child has early onset epilepsy (multifocal), tonic clonics, refractory, maxed out on clobzazam, brivaracetam, and carbamazepine. Has had ataxia and fine motor issues preceding onset of seizures. Normal MRI, GDD, etc etc.
Child crashes out for weeks AFTER an illness - mania, grabbing head and screaming (seizure? Headache?), extreme (but variable) fatigue, weakness, break through seizures. At a loss, they can’t go to school like this.
Has anyone experienced something similar? I had a reco about GLUT1, we didn’t see any variants of concern on our sequencing.com results but still possible.
No bot or AI responses.
ETA we are currently waiting on trio exome results through our health system but feeling like I can’t wait another month.