Variant Late Infantile Neuronal Ceroid Lipofuscinosis Because of CLN1 Mutations

Pediatric Neurology

Volumn 40, Issue 4, 2009, Pages 271-276

  Simonati, Alessandro ^a   Tessa, Alessandra ^b   Bernardina, Bernardo Dalla ^c   Biancheri, Roberta ^d   Veneselli, Edvige ^d   Tozzi, Giulia ^b   Bonsignore, Maria ^e   Grosso, Salvatore ^f   Piemonte, Fiorella ^b   Santorelli, Filippo M ^b  

^a Section of Clinical Neurology   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF VERONA   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

^e UNIVERSITY OF MESSINA   (Italy)

^f UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BEHAVIOR DISORDER; BRAIN CORTEX; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLN1 GENE; COGNITION; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; ELECTRON MICROSCOPY; ELECTRORETINOGRAM; EVOKED VISUAL RESPONSE; EXON; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; MALE; MICROCEPHALY; MYOCLONUS; NEUROLOGIC DISEASE; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SIBLING;

ADOLESCENT; AGE OF ONSET; ALLELES; BRAIN; CHILD; CHILD BEHAVIOR DISORDERS; CHILD DEVELOPMENT; CHILD, PRESCHOOL; DISEASE PROGRESSION; ELECTRODIAGNOSIS; ELECTROENCEPHALOGRAPHY; FEMALE; GENE DELETION; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEIZURES; SLEEP; SPEECH DISORDERS;

EID: 62149113297     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2008.10.018     Document Type: Article

References (22)

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