Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome

Homozygous C-terminal loss-of-function Na_V1.4 variant in a patient with congenital myasthenic syndrome

J Neurol Neurosurg Psychiatry. 2020 Aug;91(8):898-900. doi: 10.1136/jnnp-2020-323173. Epub 2020 Jun 2.

Andoni Echaniz-Laguna^{1

2

3}, Valérie Biancalana^{4

5}, Aleksandra Nadaj-Pakleza⁶, Emmanuel Fournier⁷, Emma Matthews⁸, Michael G Hanna⁸, Roope Männikkö⁹

¹ Department of Neurology, APHP, CHU de Bicêtre, Le Kremlin Bicêtre, France.
² French National Reference Center for Rare Neuropathies (NNERF), Le Kremlin Bicêtre, France.
³ INSERM U1195 & Paris-Sud University, Le Kremlin Bicêtre, France.
⁴ Laboratoire Diagnostic Génétique, CHR, Strasbourg, France.
⁵ Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR 7104, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France.
⁶ Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
⁷ Department of Neurophysiology, APHP, CHU Pitié-Salpêtrière, Paris, France.
⁸ Department of Neuromuscular disease, UCL Queen Sqaure Institute of Neurology, London, United Kingdom.
⁹ Department of Neuromuscular disease, UCL Queen Sqaure Institute of Neurology, London, United Kingdom r.mannikko@ucl.ac.uk.

No abstract available

Keywords: channels; myasthenia; neuromuscular.