Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox … X Jiang, PK Raju, N D'Avanzo, M Lachance, J Pepin, F Dubeau, ... Epilepsia 60 (9), 1881-1894, 2019 | 84 | 2019 |
Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases Y Murakami, TTM Nguyen, N Baratang, PK Raju, A Knaus, S Ellard, ... The American Journal of Human Genetics 105 (2), 384-394, 2019 | 51 | 2019 |
Microtubule‐associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy PK Raju, P Satishchandra, S Nayak, V Iyer, S Sinha, A Anand Human mutation 38 (7), 816-826, 2017 | 12 | 2017 |
Both GEF domains of the autism and developmental epileptic encephalopathy-associated Trio protein are required for proper tangential migration of GABAergic interneurons L Eid, L Lokmane, PK Raju, SB Tene Tadoum, X Jiang, K Toulouse, ... Molecular Psychiatry, 1-21, 2024 | | 2024 |
Both GEF domains of the autism and epilepsy-associated Trio protein are required for proper tangential migration of GABAergic interneurons E Rossignol, L Eid, PK Raju, L Lokmane, SBT Tadoum, X Jiang, ... | | 2023 |
Both GEF domains of the autism and epilepsy-associated Trio protein are required for proper tangential migration of GABAergic interneurons L Eid, L Lokmane, PK Raju, SBT Tadoum, X Jiang, K Toulouse, ... bioRxiv, 2022.12. 31.522400, 2023 | | 2023 |
EFHC2 variants in juvenile myoclonic epilepsy SV Joshi, P Raju, P Satishchandra, S Sinha, S Nayak, A Anand EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 390-390, 2020 | | 2020 |
PHACTRing in actin: actin deregulation in genetic epilepsies L Eid, PK Raju, E Rossignol Brain 141 (11), 3084-3088, 2018 | | 2018 |
Defective microtubule organization due to novel EFHC1 mutations linked to juvenile myoclonic epilepsy. PK Raju, S Nayak, P Satishchandra, K Radhakrishnan, A Anand Epilepsia 54, 15-15, 2013 | | 2013 |
I greatly appreciate the work of the authors whose work appears in this issue and the wide range of ideas that both the authors and reviewers have contributed. I hope you will … PK Raju | | |