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Volumn 255, Issue 10, 2008, Pages 1600-1602
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Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family
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Author keywords
[No Author keywords available]
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Indexed keywords
ACETAZOLAMIDE;
CARBAMAZEPINE;
CLOBAZAM;
FLUNARIZINE;
GENE PRODUCT;
PHENYTOIN;
PROTEIN CACNA1A;
TETRACOSACTIDE;
UNCLASSIFIED DRUG;
VALPROIC ACID;
ADOLESCENT;
ADULT;
AMINO ACID SUBSTITUTION;
BENIGN PAROXYSMAL TORTICOLLIS OF INFANCY;
CACNA1A GENE;
CHILD;
CLINICAL ARTICLE;
DISEASE EXACERBATION;
DNA EXTRACTION;
DRUG EFFICACY;
EPISODIC ATAXIA;
EXON;
FAMILIAL DISEASE;
GENE;
GENE MUTATION;
HUMAN;
INTRON;
LETTER;
NEUROLOGIC DISEASE;
NUCLEOTIDE SEQUENCE;
PAROXYSMAL TONIC UPGAZE;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
ADOLESCENT;
ADULT;
AGE OF ONSET;
ATAXIA;
CALCIUM CHANNELS;
CHILD;
CHILD, PRESCHOOL;
DNA MUTATIONAL ANALYSIS;
FAMILY;
FEMALE;
HUMANS;
INFANT;
MALE;
MOVEMENT DISORDERS;
OCULAR MOTILITY DISORDERS;
PEDIGREE;
POINT MUTATION;
POSTURE;
TORTICOLLIS;
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EID: 56349160499
PISSN: 03405354
EISSN: 14321459
Source Type: Journal
DOI: 10.1007/s00415-008-0982-8 Document Type: Letter |
Times cited : (76)
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References (13)
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