Gemma L. Carvill
- Not all SCN1A epileptic encephalopathies are Dravet syndrome
2017/08/09 by Lynette G. Sadleir, Emily I. Mountier, Emily Mountier +354 · 29 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Genomics and Rare Diseases #Genetics and Neurodevelopmental Disorders
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
2013/05/26 by Gemma L. Carvill, Gemma L Carvill, Sinéad B Heavin +50 · 5 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Epilepsy research and treatment #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases
- A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies
2020/03/01 by Hannah C. Happ, Gemma L. Carvill · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases #Genomic variations and chromosomal abnormalities