Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
rs1554772959
in
DNM1
gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
PMID 27806796
2016 [Dynamin-1-related infantile spasms: a case report and review of literature].
PMID 28667181
2017
DNM1
encephalopathy: A new disease of vesicle fission.
PMID 25262651
2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
PMID 25533962
2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 27476654
2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.