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3. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

4. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

5. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

6. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

7. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

8. Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

9. De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

10. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

11. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

13. Pitfalls in genetic testing: the story of missed SCN1A mutations

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