Proline-rich transmembrane protein 2- negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients

Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation

(2016) Elena Gardella et al.   ANNALS OF NEUROLOGY

SCN8Aencephalopathy: Research progress and prospects

(2016) Miriam H. Meisler et al.   EPILEPSIA

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients

(2016) Costanza Lamperti et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The evolving spectrum ofPRRT2-associated paroxysmal diseases

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

The clinical and genetic heterogeneity of paroxysmal dyskinesias

(2015) Alice R. Gardiner et al.   BRAIN

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

De novoKCNMA1mutations in children with early-onset paroxysmal dyskinesia and developmental delay

(2015) Zhong-Bin Zhang et al.   MOVEMENT DISORDERS

Paroxysmal kinesigenic dyskinesia

(2015) Xiao-Jun Huang et al.   NEUROLOGY

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

(2015) Jacy L. Wagnon et al.   Frontiers in Neurology

Genotype–phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases

(2014) Cheng-yuan Mao et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

PRRT2mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China

(2013) Y. P. Chen et al.   EUROPEAN JOURNAL OF NEUROLOGY

Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations

(2013) L. C. S. Tan et al.   EUROPEAN JOURNAL OF NEUROLOGY

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

(2013) Leanne M Dibbens et al.   NATURE GENETICS

PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response

(2013) H.-F. Li et al.   NEUROLOGY

A Tumor Suppressor Complex with GAP Activity for the Rag GTPases That Signal Amino Acid Sufficiency to mTORC1

(2013) L. Bar-Peled et al.   SCIENCE

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia

(2012) Hsien-yang Lee et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

(2012) Shinji Ono et al.   JOURNAL OF HUMAN GENETICS

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia

(2012) Alexander J. A. Groffen et al.   JOURNAL OF NEUROLOGY

PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population

(2012) A. Meneret et al.   NEUROLOGY

Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot

(2012) Li Cao et al.   PARKINSONISM & RELATED DISORDERS

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

(2011) J.-L. Wang et al.   BRAIN

Targeted genomic sequencing identifiesPRRT2mutations as a cause of paroxysmal kinesigenic choreoathetosis

(2011) Jingyun Li et al.   JOURNAL OF MEDICAL GENETICS

Mutations inPRRT2result in paroxysmal dyskinesias with marked variability in clinical expression

(2011) Qing Liu et al.   JOURNAL OF MEDICAL GENETICS

Paroxysmal dyskinesias

(2011) Kailash P. Bhatia   MOVEMENT DISORDERS

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

(2011) Wan-Jin Chen et al.   NATURE GENETICS

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

(2009) Daniele Ghezzi et al.   HUMAN MOLECULAR GENETICS

Functional Analysis of the Kv1.1 N255D Mutation Associated with Autosomal Dominant Hypomagnesemia

(2009) Jenny van der Wijst et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A missense mutation in the Kv1.1 voltage-gated potassium channel–encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

(2009) Bob Glaudemans et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2008) A. Suls et al.   BRAIN