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

References

Page 1

	Year	Citations
A gene atlas of the mouse and human protein-encoding transcriptomes Andrew I. Su, Tim Wiltshire, Serge Batalov, Proceedings of the National Academy of Sciences EngineeringGeneticsTranscriptomics TechnologyGene CharacterizationMolecular Genetics	2004	3.5K
Deep sequencing reveals 50 novel genes for recessive cognitive disorders Hossein Najmabadi, Hao Hu, Masoud Garshasbi, Nature Neurodegenerative DiseasesRecessive Cognitive DisordersGenetic DisorderGeneticsNeuroscience	2011	975
Risk factors for sudden unexpected death in epilepsy: a case control study Lena Nilsson, BY Farahmand, P Persson, The Lancet Case Control StudyRisk ManagementPatient SafetySudden Unexpected DeathNeurology	1999	519
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia Wan‐Jin Chen, Yu Lin, Zhi‐Qi Xiong, Nature Genetics Transcriptional RegulationMendelian DisorderGenetic DisorderGeneticsDegenerative Disease	2011	477
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 Arvid Suls, Peter Dedeken, Karolien Goffin, Brain Neurological DisorderGlucose UptakeSocial SciencesGenetic AnalysisParoxysmal Exercise-induced Dyskinesia	2008	340
Familial Infantile Convulsions and Paroxysmal Choreoathetosis: A New Neurological Syndrome Linked to the Pericentromeric Region of Human Chromosome 16 Pierre Szepetowski, Jacques Rochette, Patrick Berquin, The American Journal of Human Genetics Down SyndromeDevelopmental AnomalyMendelian DisorderFamilial Infantile ConvulsionsGenetic Disorder	1997	299
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias J.-L. Wang, Li Cao, Xinhua Li, Brain Mendelian DisorderGenetic DisorderGeneticsPathogenesisKinesigenic Dyskinesias	2011	289
Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy Samuel F. Berkovic, Sarah E. Heron, Lucio Giordano, Annals of Neurology	2004	276
PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome Sarah E. Heron, Bronwyn E. Grinton, Sara Kivity, The American Journal of Human Genetics Developmental AnomalyGenetic DisorderChoreoathetosis SyndromePediatricsNeurogenetics	2012	258
Benign infantile familial convulsions Federico Vigevano, Lucia Fusco, M. Di Capua, European Journal of Pediatrics Developmental AnomalyPediatricsPrenatal DiagnosisAbnormal DevelopmentNeuropathology	1992	231

Page 1