Article
PIGN encephalopathy: Characterizing the epileptology.
Epilepsia - 1 Apr 2022
Bayat Allan, de Valles-Ibáñez Guillem, Pendziwiat Manuela, Knaus Alexej, Alt Kerstin, Biamino Elisa, Bley Annette, Calvert Sophie, Carney Patrick, Caro-Llopis Alfonso, Ceulemans Berten, Cousin Janice, Davis Suzanne, des Portes Vincent, Edery Patrick, England Eleina, Ferreira Carlos, Freeman Jeremy, Gener Blanca, Gorce Magali, Heron Delphine, Hildebrand Michael S, Jezela-Stanek Aleksandra, Jouk Pierre-Simon, Keren Boris, Kloth Katja, Kluger Gerhard, Kuhn Marius, Lemke Johannes R, Li Hong, Martinez Francisco, Maxton Caroline, Mefford Heather C, Merla Giuseppe, Mierzewska Hanna, Muir Alison, Monfort Sandra, Nicolai Joost, Norman Jennifer, O'Grady Gina, Oleksy Barbara, Orellana Carmen, Orec Laura Elena, Peinhardt Charlotte, Pronicka Ewa, Rosello Monica, Santos-Simarro Fernando, Schwaibold Eva Maria Christina, Stegmann Alexander P A, Stumpel Constance T, Szczepanik Elzbieta, Terczyńska Iwona, Thevenon Julien, Tzschach Andreas, Van Bogaert Patrick, Vittorini Roberta, Walsh Sonja, Weckhuysen Sarah, Weissman Barbara, Wolfe Lynne, Reymond Alexandre, De Nittis Pasquelena, Poduri Annapurna, Olson Heather, Striano Pasquale, Lesca Gaetan, Scheffer Ingrid E, Møller Rikke S, Sadleir Lynette G
Abstract excerpt
OBJECTIVE: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. METHODS: We recruited patients with epilepsy due to biallelic PIGN variants and obtained clinical data regarding age at seizure onset/offset and semiology, development, medical history, examination,...
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