Anna-Elina Lehesjoki
University of Helsinki(FI)Folkhälsans Forskningscentrum(FI)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Ion channel regulation and function, Cellular transport and secretion, Lysosomal Storage Disorders Research
Most-Cited Works
- → A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy(2014)313 cited
- → De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy(2015)268 cited
- → The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter(2007)228 cited
- → Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1(1997)192 cited
- → Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts(2012)170 cited
- → Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans(2011)147 cited
- → Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis(2009)140 cited
- → CHD2variants are a risk factor for photosensitivity in epilepsy(2015)136 cited
- → Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen(2004)124 cited
- → PRRT2 Mutations are the major cause of benign familial infantile seizures(2012)104 cited