Johannes R Lemke
Affiliation: University of Leipzig
Johannesen K, Marini C, Pfeffer S, Møller R, Dorn T, Niturad C, et al
. Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Neurology. 2016;87:1140-51 pubmed publisher
..Myoclonic and tonic-clonic seizures with pathologic response to photic stimulation are common and shared features in both mild and severe phenotypes. ..
Heyne H, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, et al
. De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet. 2018;50:1048-1053 pubmed publisher
..We further demonstrate the extent to which our results affect current genetic testing as well as treatment, emphasizing the benefit of accurate genetic diagnosis in NDDs with epilepsy. ..
Lal D, SteinbrÃ¼cker S, Schubert J, Sander T, Becker F, Weber Y, et al
. Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Res. 2015;115:95-9 pubmed publisher
..These findings suggest that mutations in GRIN2A preferentially are involved in genetic variance of pediatric IFE and do not contribute significantly to either adult focal epilepsies as TLE or generalized epilepsies. ..
Helbig K, Hedrich U, Shinde D, Krey I, Teichmann A, Hentschel J, et al
. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Ann Neurol. 2016;80: pubmed publisher
..2 channels showed loss of function with a dominant-negative effect. Our findings highlight the phenotypic spectrum of a recurrent KCNA2 mutation, implicating ion channel dysfunction as a novel HSP disease mechanism. Ann Neurol 2016. ..