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Author/Creator Joshi, Nishtha

1. Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain‐of‐function variant. (9th November 2016)

Authors:
Millichap, John J.; Miceli, Francesco; De Maria, Michela; Keator, Cynthia; Joshi, Nishtha; Tran, Baouyen; Soldovieri, Maria Virginia; Ambrosino, Paolo; Shashi, Vandana; Mikati, Mohamad A.; Cooper, Edward C.; Taglialatela, Maurizio
Journal:
Epilepsia
Issue:
Volume 58:issue 1(2017)
Page Start:
e10
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. (October 2016)

Authors:
Millichap, John J.; Park, Kristen L.; Tsuchida, Tammy; Ben-Zeev, Bruria; Carmant, Lionel; Flamini, Robert; Joshi, Nishtha; Levisohn, Paul M.; Marsh, Eric; Nangia, Srishti; Narayanan, Vinodh; Ortiz-Gonzalez, Xilma R.; Patterson, Marc C.; Pearl, Phillip L.; Porter, Brenda; Ramsey, Keri; McGinnis, E...
Journal:
Neurology
Issue:
Volume 2:Number 5(2016)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H. (31st January 2017)

Authors:
Mulkey, Sarah B.; Ben‐Zeev, Bruria; Nicolai, Joost; Carroll, John L.; Grønborg, Sabine; Jiang, Yong‐hui; Joshi, Nishtha; Kelly, Megan; Koolen, David. A.; Mikati, Mohamad A.; Park, Kristen; Pearl, Phillip L.; Scheffer, Ingrid E.; Spillmann, Rebecca C.; Taglialatela, Maurizio; Vieker, Silvia; Weckh...
Journal:
Epilepsia
Issue:
Volume 58:issue 3(2017)
Page Start:
436
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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