Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine

Developmental Medicine and Child Neurology

Volumn 54, Issue 10, 2012, Pages 958-960

  Dale, Russell C ^a   Gardiner, Alice ^b   Antony, Jayne ^a   Houlden, Henry ^b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; PHENYTOIN; PIZOTIFEN; PROPRANOLOL;

ARTICLE; BLURRED VISION; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; CYANOSIS; FATIGUE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HAND PARESTHESIA; HEAD INJURY; HEADACHE; HEMIPLEGIC MIGRAINE; HETEROZYGOTE DETECTION; HUMAN; LIMB WEAKNESS; LOSS OF FUNCTION MUTATION; LOW DRUG DOSE; MALE; MICROARRAY ANALYSIS; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; PAROXYSMAL DYSTONIA; PAROXYSMAL KINESIGENIC DYSKINESIA; PAROXYSMAL TORTICOLLIS; PHONOPHOBIA; PHOTOPHOBIA; PRIORITY JOURNAL; PRRT2 GENE; SEIZURE; SLEEP DEPRIVATION; SLURRED SPEECH; STRESS; TONIC CLONIC SEIZURE; TORTICOLLIS;

ADULT; ALLELES; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; DNA MUTATIONAL ANALYSIS; DYSTONIA; EPILEPSY, BENIGN NEONATAL; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MIGRAINE WITH AURA; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; PREGNANCY; SPASMS, INFANTILE; TORTICOLLIS;

EID: 84866367603     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2012.04394.x     Document Type: Article

References (10)

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