Search Results - Nishtha Joshi

  • Showing 1 - 4 results of 4
Refine Results
  1. 1
    Infantile spasms and encephalopathy without preceding neonatal seizures caused by <i>KCNQ2</i> R198Q, a gain‐of‐function variant

    Infantile spasms and encephalopathy without preceding neonatal seizures caused by <i>KCNQ2</i> R198Q, a gain‐of‐function variant by J Gordon Millichap, Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, Paolo Ambrosino, Vandana Shashi, Mohamad A. Mikati, Edward C. Cooper, Maurizio Taglialatela

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

    High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity by Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora F. Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George

    Published 2022
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Neonatal nonepileptic myoclonus is a prominent clinical feature of <i><scp>KCNQ</scp>2</i> gain‐of‐function variants R201C and R201H

    Neonatal nonepileptic myoclonus is a prominent clinical feature of <i><scp>KCNQ</scp>2</i> gain‐of‐function variants R201C and R201H by Sarah B. Mulkey, Bruria Ben‐Zeev, Joost Nicolai, John L. Carroll, Sabine Grønborg, Yong‐Hui Jiang, Nishtha Joshi, Megan L. Kelly, David A. Koolen, Mohamad A. Mikati, Kristen Park, Phillip L. Pearl, Ingrid E. Scheffer, Rebecca C. Spillmann, Maurizio Taglialatela, Silvia Vieker, Sarah Weckhuysen, Edward C. Cooper, Maria Roberta Cilio

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    <i>KCNQ2</i> encephalopathy

    <i>KCNQ2</i> encephalopathy by J Gordon Millichap, Kristen Park, Tammy N. Tsuchida, Bruria Ben‐Zeev, Lionel Carmant, Robert Flamini, Nishtha Joshi, Paul M. Levisohn, Eric D. Marsh, Srishti Nangia, Vinodh Narayanan, Xilma R. Ortiz‐González, Marc C. Patterson, Phillip L. Pearl, Brenda E. Porter, Keri Ramsey, Emily McGinnis, Maurizio Taglialatela, Molly Tracy, Baouyen Tran, Charu Venkatesan, Sarah Weckhuysen, Edward C. Cooper

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: