Condition: Epileptic encephalopathy
rs121909323
in
CACNA1A
gene and
Epileptic encephalopathy
PMID 25735478
2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
rs1135401732
in
HNRNPU
gene and
Epileptic encephalopathy
PMID 28815871
2017 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
rs1555703272
in
SLC25A10
gene and
Epileptic encephalopathy
PMID 29211846
2018 SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
rs1135401734
in
SNORA100;HNRNPU
gene and
Epileptic encephalopathy
PMID 28815871
2017 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
rs775162839
in
UGDH
gene and
Epileptic encephalopathy
PMID 32001716
2020 Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.