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To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome.

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H / 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; Weckhuysen, Sarah; Cooper, Edward C; Cilio, Maria Roberta. - In: EPILEPSIA. - ISSN 0013-9580. - 58:3(2017), pp. 436-4455-445. [10.1111/epi.13676]

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H

TAGLIALATELA, MAURIZIO;
2017

Abstract

To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome.
2017
EPILEPSIA
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H / 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; Weckhuysen, Sarah; Cooper, Edward C; Cilio, Maria Roberta. - In: EPILEPSIA. - ISSN 0013-9580. - 58:3(2017), pp. 436-4455-445. [10.1111/epi.13676]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/668113
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