Common features
• Early onset epilepsy, from birth to 2 months of age
• Myoclonic seizures, migrating partial seizures or tonic-clonic seizures
• Severe hypotonia
• No psychomotor acquisition (or some in moderate cases)
• Severe developmental delay
Specific features for severe phenotype
• Intractable seizures
• EEG with suppression bursts pattern
• Microcephaly and brain atrophy
• Altered visual and auditory evoked potentials
In some severe cases, were also observed:
• Increased amino acids plasmatic levels
• Vacuolated fibroblasts at skin biopsy
SLC25A22