Defining the phenotypic spectrum of <i>SLC6A1</i> mutationsKatrine M. Johannesen, Guido Rubboli, Jamel Chelly et al.|Epilepsia|2018Cited by 151
Gene Expression Alterations in the Cerebellum and Granule Neurons of Cstb−/− Mouse Are Associated with Early Synaptic Changes and InflammationTarja Joensuu, Anna‐Elina Lehesjoki|PLoS ONE|2014Cited by 46
Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsyMarieke M van der Knoop, Henry Houlden, Reza Maroofian et al.|Brain|2022Cited by 42
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndromeViivi Nevanlinna, Anna‐Elina Lehesjoki|European Journal of Medical Genetics|2019Cited by 14
GRIN2B Encephalopathy: Novel FindingsJohannes R. Lemke, Hirofumi Kusumoto, Mark Mintz et al.|Unknown|2017Cited by 0