Article
Defining the phenotypic spectrum of SLC6A1 mutations.
Epilepsia - 1 Feb 2018
Johannesen Katrine M, Gardella Elena, Linnankivi Tarja, Courage Carolina, de Saint Martin Anne, Lehesjoki Anna-Elina, Mignot Cyril, Afenjar Alexandra, Lesca Gaetan, Abi-Warde Marie-Thérèse, Chelly Jamel, Piton Amélie, Merritt J Lawrence, Rodan Lance H, Tan Wen-Hann, Bird Lynne M, Nespeca Mark, Gleeson Joseph G, Yoo Yongjin, Choi Murim, Chae Jong-Hee, Czapansky-Beilman Desiree, Reichert Sara Chadwick, Pendziwiat Manuela, Verhoeven Judith S, Schelhaas Helenius J, Devinsky Orrin, Christensen Jakob, Specchio Nicola, Trivisano Marina, Weber Yvonne G, Nava Caroline, Keren Boris, Doummar Diane, Schaefer Elise, Hopkins Sarah, Dubbs Holly, Shaw Jessica E, Pisani Laura, Myers Candace T, Tang Sha, Tang Shan, Pal Deb K, Millichap John J, Carvill Gemma L, Helbig Kathrine L, Mecarelli Oriano, Striano Pasquale, Helbig Ingo, Rubboli Guido, Mefford Heather C, Møller Rikke S
Abstract excerpt
OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we...
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