Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.
Ortiz S, Affronte L, Bagliani C, El-Kamand S, Kan ASH, Kristoffersen IT, Dahl RS, Højte AF, Auvin S, Bouman A, Zeidler S, Kluger G, Lesca G, Chatron N, Goke-Samar Z, Papadopoulou MT, Terzi MAP, Schaefer E, de Saint Martin A, Baer S, Al Owain M, Takroni S, Al-Dhalaan H, Bonanni P, Rossi A, Zanotta N, Trivisano M, Specchio N, de Dominicis A, Striano P, Orsini A, Mancardi MM, Neuens S, Jennesson-Lyver M, Benkel-Herrenbrueck I, Genevieve D, Sidlow R, Tezcan K, Krey I, Lemke JR, Platzer K, Lederer D, Talvik I, Vaher U, Braun KPJ, Guerrot AM, More R, De Wachter M, Weckhuysen S, Carapancea E, Cilio MR, Jacobs J, Sterbova K, Balestrini S, Guerrini R, Peroni G, Mero IL, ElNaggar W, Elkhateeb N, Schmetz A, Chan DL, Mirzaa GM, Chaumette B, Legrand A, McTague A, Stödberg T, Harris RV, Berkovic SF, Scheffer IE, Chebib M, Gardella E, Ahring PK, Absalom NL, Møller RS.
Ortiz S, et al.
Epilepsia. 2026 Jan 28. doi: 10.1002/epi.70096. Online ahead of print.
Epilepsia. 2026.
PMID: 41603155
Gross motor dysfunction was markedly worse in the GoF group, with 64% classified as GMFCS IV or V (non-ambulation), compared to 7.5% in the LoF group. An inverse correlation was found between age at seizure onset and GMFCS severity in the GoF, but not the LOF group. ...
Gross motor dysfunction was markedly worse in the GoF group, with 64% classified as GMFCS IV or V (non-ambulation), compared to 7.5% …