Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
rs1569086116
in
SYNJ1
gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
PMID 25316601
2015 Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.
PMID 27435091
2016 Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.