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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
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Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.
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Eur J Hum Genet
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A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
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107 :
2020
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18
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
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5
