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Volumn 15, Issue 6, 2006, Pages 449-453
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Electroclinical evolution in ring chromosome 20 epilepsy syndrome: A case with severe phenotypic features followed for 25 years
e
SPEDALI CIVILI
(Italy)
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Author keywords
Chromosomal anomaly; Dysmorphism; Epilepsy; Mental retardation; Ring chromosome 20
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Indexed keywords
ANTICONVULSIVE AGENT;
CARBAMAZEPINE;
GABAPENTIN;
PHENOBARBITAL;
VALPROIC ACID;
ADULT;
ARTICLE;
CASE REPORT;
CEREBELLUM ATROPHY;
CHROMOSOMAL INSTABILITY;
CHROMOSOME 20;
CHROMOSOME 20P;
CHROMOSOME 20Q;
CHROMOSOME ANALYSIS;
CHROMOSOME DELETION;
CLINICAL ASSESSMENT;
CLINICAL FEATURE;
COGNITIVE DEFECT;
COMPLEX PARTIAL SEIZURE;
DISEASE SEVERITY;
DISORIENTATION;
DYSARTHRIA;
ELECTRIC ACTIVITY;
ELECTROENCEPHALOGRAM;
EPILEPSY;
EPILEPTIC STATE;
FACE DYSMORPHIA;
FEMALE;
FLUORESCENCE IN SITU HYBRIDIZATION;
FOLLOW UP;
GENE LOCUS;
HAPLOIDY;
HUMAN;
HYPERTELORISM;
IMMUNOLOGICAL MONITORING;
INTELLIGENCE QUOTIENT;
INTRACTABLE EPILEPSY;
MENTAL DEFICIENCY;
METAPHASE;
MOLECULAR EVOLUTION;
MOTOR DYSFUNCTION;
NEUROLOGIC EXAMINATION;
NUCLEAR MAGNETIC RESONANCE IMAGING;
ONSET AGE;
PHENOTYPE;
PRIORITY JOURNAL;
PSYCHOMETRY;
QUADRIPLEGIA;
RING CHROMOSOME;
SPEECH DISORDER;
TELOMERE;
TONIC CLONIC SEIZURE;
ABNORMALITIES, MULTIPLE;
CHROMOSOMES, HUMAN, PAIR 20;
ELECTROENCEPHALOGRAPHY;
EPILEPSY;
FACIAL BONES;
FEMALE;
HUMANS;
MENTAL RETARDATION;
MIDDLE AGED;
RING CHROMOSOMES;
SYNDROME;
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EID: 33746877125
PISSN: 10591311
EISSN: None
Source Type: Journal
DOI: 10.1016/j.seizure.2006.03.004 Document Type: Article |
Times cited : (19)
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References (13)
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