Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy

por Jotte Rodrigues Bento, Candice Feben, Marlies Kempers, Maartje vanRij, Mallory Woiski, Koenraad Devriendt, Luc De Catte, Marcella Baldewijns, Maaike Alaerts, Josephina Meester, Aline Verstraeten, Willy Hendson, Bart Loeys
Publicado 2021

<i>KCNG1</i>-Related Syndromic Form of Congenital Neuromuscular Channelopathy in a Crossbred Calf

por Joana G. P. Jacinto, Irene M. Häfliger, Eylem Emek Akyürek, Roberta Sacchetto, Cinzia Benazzi, Arcangelo Gentile, Cord Drögemüller
Publicado 2021

Approach to Neurological Channelopathies and Neurometabolic Disorders in Newborns

por Inn-Chi Lee
Publicado 2021

Pain insensitivity in a child with a de novo interstitial deletion of the long arm of the chromosome 4: Case report

por Cascella,Marco, Muzio,María Rosaria
Publicado 2017

The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function

por Laura B. Jones, Colin H. Peters, Richard E. Rosch, Richard E. Rosch, Maxine Owers, Elaine Hughes, Elaine Hughes, Deb K. Pal, Deb K. Pal, Peter C. Ruben
Publicado 2021