Epileptic features in Cornelia de Lange syndrome: Case report and literature review

Brain and Development

Volumn 36, Issue 10, 2014, Pages 837-843

  Pavlidis, Elena ^a   Cantalupo, Gaetano ^b   Bianchi, Sara ^a   Piccolo, Benedetta ^a   Pisani, Francesco ^a  

^a UNIVERSITY OF PARMA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

Author keywords

Cornelia de Lange syndrome; Epilepsy; Febrile seizures; Mild variant of Cornelia de Lange syndrome; Seizures; SMC1A

Indexed keywords

VALPROIC ACID;

AMINO ACID SUBSTITUTION; APNEA; ATAXIC GAIT; BODY DYSMORPHIC DISORDER; CASE REPORT; CEREBELLAR VERMIS HYPOPLASIA; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CODON; COMPLEX PARTIAL SEIZURE; DE LANGE SYNDROME; DIVERGENT STRABISMUS; ECHOGRAPHY; ELECTROENCEPHALOGRAM; EPILEPSY; FOCAL EPILEPSY; GENE; GENE SEQUENCE; GROWTH DISORDER; HEARING IMPAIRMENT; HUMAN; HYPERVENTILATION; LANGUAGE DISABILITY; NEONATAL CEREBRAL ULTRASOUND; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALLOR; PARTIAL SEIZURE WITH SECONDARY GENERALIZATION; PHENOTYPE; PHOTOSTIMULATION; PSYCHOMOTOR DISORDER; REVIEW; SLEEP DEPRIVATION; SMC1A GENE; TONIC CLONIC SEIZURE; TRISMUS; AGE DISTRIBUTION; BIBLIOGRAPHIC DATABASE; COMPLICATION; ELECTROENCEPHALOGRAPHY; FEMALE; GENETICS; PHYSIOLOGY; PRESCHOOL CHILD; STATISTICS AND NUMERICAL DATA;

AGE DISTRIBUTION; BRAIN WAVES; CHILD, PRESCHOOL; DATABASES, BIBLIOGRAPHIC; DE LANGE SYNDROME; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; HUMANS;

EID: 84909958332     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.12.008     Document Type: Review

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