Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434502
rs121434502
RANBP2
0.020 GeneticVariation BEFREE Both were diagnosed with familial ANE after identifying a common missense mutation in RANBP2 (c.1754C>T: p.Thr585Met) in the younger sister and their father. 28336122

2017
dbSNP: rs121434502
rs121434502
RANBP2
0.020 GeneticVariation BEFREE This is a description of a three and half years old girl with recurrent ANE with RANBP2 mutation (c.1754 C>T (p.T585M)). 27591117

2016
dbSNP: rs770727082
rs770727082
RANBP2
0.010 GeneticVariation BEFREE A heterozygous novel rare missense variant (c.4993A>G, p.Lys1665Glu) was identified in <i>RANBP</i>2, a gene associated with acute necrotizing encephalopathy. 29593631

2018
dbSNP: rs121918807
rs121918807
SCN1A ; SCN1A-AS1 ; LOC102724058
0.010 GeneticVariation BEFREE The third patient with R1575C had no seizures until the onset of ANE. 22309220

2012