Praveen K. Raju

Both gain‐of‐function and loss‐of‐function <i> de novo <scp>CACNA</scp> 1A </i> mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome

Xiao Jiang, Praveen K. Raju, Nazzareno D’Avanzo et al. · Epilepsia · 2019 · 95 citations

Life Sciences, Genetics, Neuroscience +17

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang et al. · The American Journal of Human Genetics · 2019 · 52 citations · Full text

Life Sciences, Genetics, Neuroscience +13

Both GEF domains of the autism and developmental epileptic encephalopathy-associated Trio protein are required for proper tangential migration of GABAergic interneurons

Lara Eid, Ludmilla Lokmane, Praveen K. Raju et al. · Molecular Psychiatry · 2024 · 17 citations · Full text

Medicine, Neurobiology, Neuroscience +17

Microtubule-associated defects caused by <i>EFHC1</i> mutations in juvenile myoclonic epilepsy

Praveen K. Raju, Parthasarathy Satishchandra, Sourav Nayak et al. · Human Mutation · 2017 · 13 citations

Life Sciences, Genetics, Molecular Genetics +17