Nogueira Freitas AC

ORCID: 0000-0002-8406-6204 · 1 paper in corpus
2020
eLife ·doi:10.7554/elife.57190

Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of disorders characterized by epilepsy with comorbid intellectual disability. Recently, two de novo heterozygous mutations in the gene encoding TRPM3, a calcium pe…