Associated Papers
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
Akamine S et al.
European Journal of Medical Genetics, 2018
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