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Publications
12
Citations
1.2K
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11
Active since
2012
Laura Hernández-Hernández is an author at University College London specializing in genetics, epilepsy, and molecular genetics.
Publications per year
2012–2023
12
12
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Steffen Syrbe, Ulrike B. S. Hedrich, Erik Riesch et al. · Nature Genetics · 2015 · 275 citations · Full text
The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 239 citations · Full text
Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations
Sara Zagaglia, C. Selch, Jelena Radić Nišević et al. · Neurology · 2018 · 144 citations · Full text
Medicine, Neurology, Neuroscience +17
The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy
Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas et al. · Epilepsia · 2019 · 92 citations · Full text
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