Anna-Elina Lehesjoki

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens et al. · Nature Genetics · 2014 · 311 citations · Full text

Genetics, Neuroscience, Central Nervous System +3

The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

Eija Siintola, Meral Topçu, Nina Aula et al. · The American Journal of Human Genetics · 2007 · 228 citations · Full text

Molecular Neuroscience, Molecular Physiology, Ependyma +8

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

Kimmo Virtaneva, Elena D’Amato, Jinmin Miao et al. · Nature Genetics · 1997 · 192 citations

Genetics, Neuroscience, Myoclonus Epilepsy +1

Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

Anne Polvi, Tarja Linnankivi, Tero Kivelä et al. · The American Journal of Human Genetics · 2012 · 168 citations · Full text

Cause Cerebroretinal Microangiopathy, Ophthalmology, Pathology +5

Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

Hirotaka Tao, J. Robert Manak, Levi P. Sowers et al. · The American Journal of Human Genetics · 2011 · 146 citations · Full text

Molecular Neuroscience, Allergy, Genetics +5