Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a new entity frequently associated with refractory epilepsy and neurodevelopmental disorders. Recently, it has been associated to SLC35A2 (Solute Carrier Family 35 Member A2) brain mosaic pathogenic variants. In addition, patients with germline SLC35A2 pathogenic variants improve with galactose supplementation. Therefore, the investigators aim to elucidate whether d-galactose as an add-on treatment might improve epilepsy and developmental outcomes in patients with MOGHE.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
8
Galactose supplementation, once per day, up to 1.5g/kg per day
Hospital Ruber Internacional
Madrid, Madrid, Comunidad de, Spain
RECRUITINGSeizure frequency
Seizure diary
Time frame: 6 months
Epileptiform activity at EEG
Epileptiform activity quantification (per epoch)
Time frame: 6 months
Behavioral assessment
Teacher and Parent Rating Scale (SNAP-IV) and Conners Continuous Performance Test (CPT-II)
Time frame: 6 months
Cognitive assessment
Evaluated with Wechsler Intelligence Scale for Children (WISC-IV) and Behavior Rating Inventory of Executive Function-2 (BRIEF-2)
Time frame: 6 months
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