Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

American Journal of Medical Genetics, Part A

Volumn 170, Issue 1, 2016, Pages 148-155

  Nicita, Francesco ^a   Garone, Giacomo ^a   Spalice, Alberto ^a   Savasta, Salvatore ^b   Striano, Pasquale ^c   Pantaleoni, Chiara ^d   Spartà, Maria Valentina ^b   Kluger, Gerhard ^e   Capovilla, Giuseppe ^f   Pruna, Dario ^g   Freri, Elena ^d   D'Arrigo, Stefano ^d   Verrotti, Alberto ^h  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e Hospital for Neuropediatrics and Neurological Rehabilitation   (Germany)

^f CARLO POMA HOSPITAL   (Italy)

^g DEPARTMENT OF RADIOLOGY   (Italy)

^h UNIVERSITY OF PERUGIA   (Italy)

Author keywords

Distal 7q11.23 deletion syndrome; EEG; Elastin; HIP1; Seizures

Indexed keywords

CARBAMAZEPINE; CLONAZEPAM; CORTICOTROPIN; ELASTIN; ETHOSUXIMIDE; ETIRACETAM; RUFINAMIDE; TOPIRAMATE; VALPROIC ACID; ZONISAMIDE;

ADOLESCENT; ADULT; ARTICLE; BRAIN CORTEX ATROPHY; CHILD; CHROMOSOME 7Q; CHROMOSOME DELETION; CHROMOSOME STRUCTURE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CORTICAL DYSPLASIA; DISTAL 7Q11.23 DELETION SYNDROME; DRUG RESISTANT EPILEPSY; DRUG RESPONSE; DRUG WITHDRAWAL; ELASTIN GENE; EPILEPSY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANTILE SPASM; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIVENTRICULAR HETEROTOPIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TONIC CLONIC SEIZURE; WBS CHROMOSOME REGION; WILLIAMS BEUREN SYNDROME; CASE CONTROL STUDY; CHROMOSOME 7; COMPARATIVE STUDY; COMPLICATION; GENETICS; INFANT; NEWBORN; PATHOLOGY; PHENOTYPE; YOUNG ADULT;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; EPILEPSY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; WILLIAMS SYNDROME; YOUNG ADULT;

EID: 84955472591     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37410     Document Type: Article

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