Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP

A gene atlas of the mouse and human protein-encoding transcriptomes

Andrew I. Su, Tim Wiltshire, Serge Batalov et al. · Proceedings of the National Academy of Sciences · 2004 · 3.5K citations · Full text

Engineering, Genetics, Transcriptomics Technology +19

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

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Neurodegenerative Diseases, Recessive Cognitive Disorders, Genetic Disorder +6

Risk factors for sudden unexpected death in epilepsy: a case control study

Lena Nilsson, BY Farahmand, P Persson et al. · The Lancet · 1999 · 519 citations

Case Control Study, Risk Management, Patient Safety +5

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

Wan‐Jin Chen, Yu Lin, Zhi‐Qi Xiong et al. · Nature Genetics · 2011 · 477 citations

Transcriptional Regulation, Mendelian Disorder, Genetic Disorder +6

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

Arvid Suls, Peter Dedeken, Karolien Goffin et al. · Brain · 2008 · 340 citations · Full text

Neurological Disorder, Glucose Uptake, Social Sciences +16