The evolving spectrum of PRRT2-associated paroxysmal diseases

Brain

Volumn 138, Issue 12, 2015, Pages 3476-3495

  Ebrahimi Fakhari, Darius ^a,b   Saffari, Afshin ^b   Westenberger, Ana ^c   Klein, Christine ^c  

^a HARVARD MEDICAL SCHOOL   (United States)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c UNIVERSITY OF LÜBECK   (Germany)

Author keywords

benign familial infantile epilepsy; hemiplegic migraine; paroxysmal kinesigenic dyskinesia; paroxysmal kinesigenic dyskinesia with infantile convulsions; PRRT2

Indexed keywords

CYTOSINE; NEUROTRANSMITTER; PROLINE RICH TRANSMEMBRANE PROTEIN 2; PROTEIN; SNAP25 PROTEIN; SNARE PROTEIN; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; NERVE PROTEIN; PRRT2 PROTEIN, HUMAN;

ALTERNATIVE RNA SPLICING; ANARTHRIA; ARTICLE; ATHETOSIS; AUTISM; BASAL GANGLION; BENIGN FAMILIAL INFANTILE EPILEPSY; BRAIN DEVELOPMENT; CEREBELLUM ATROPHY; CEREBELLUM CORTEX; CHOREA; CHOREOATHETOSIS; CHROMOSOME 16P; COMPLEX PARTIAL SEIZURE; CONVULSION; CORPUS STRIATUM; DENDRITE; DNA REPLICATION; DNA SEQUENCE; DYSARTHRIA; DYSKINESIA; DYSTONIA; ELECTROENCEPHALOGRAPHY; EPILEPSY; EXOME; EXON; EXTENSION MUTATION; FAMILIAL HEMIPLEGIC MIGRAINE; FAMILY HISTORY; FEBRILE CONVULSION; FRAMESHIFT MUTATION; FRONTAL CORTEX; GENE MUTATION; GENE OVEREXPRESSION; GENETIC SCREENING; GENETICS; GENOTYPE PHENOTYPE CORRELATION; GLUTAMATERGIC SYNAPSE; HEADACHE AND FACIAL PAIN; HEMIBALLISM; HEMIPLEGIC MIGRAINE; HIPPOCAMPUS; HUMAN; IMMUNOPRECIPITATION; INFANTILE CONVULSION; INFERIOR OLIVE; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; MICROARRAY ANALYSIS; MIGRAINE WITH AURA; MIGRAINE WITHOUT AURA; MISSENSE MUTATION; MOTOR DYSFUNCTION; NEOCORTEX; NERVE CELL EXCITABILITY; NERVE FIBER; NEUROBIOLOGY; NEUROSECRETORY CELL; NEUROTRANSMISSION; NEUROTRANSMITTER RELEASE; NEXT GENERATION SEQUENCING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL CORTEX; PAROXYSMAL KINESIGENIC DYSKINESIA; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PUTAMEN; ROLANDIC EPILEPSY; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; STOP CODON; SUBSTANTIA NIGRA; SYNAPSE; SYNAPSE VESICLE; TEMPORAL CORTEX; THALAMUS; TORTICOLLIS; VOLUNTARY MOVEMENT; WHITE MATTER; WILD TYPE; WRITER'S CRAMP; CENTRAL NERVOUS SYSTEM DISEASE; MUTATION;

CENTRAL NERVOUS SYSTEM DISEASES; HUMANS; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS;

EID: 84951046758     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv317     Document Type: Article

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