LIS1-related isolated lissencephaly: Spectrum of mutations and relationships with malformation severity

Archives of Neurology

Volumn 66, Issue 8, 2009, Pages 1007-1015

  Saillour, Yoann ^a   Carion, Nathalie ^a,b   Quelin, Chloé ^a   Leger, Pierre Louis ^a   Boddaert, Nathalie ^c,d   Elie, Caroline ^c   Toutain, Annick ^e   Mercier, Sandra ^e   Barthez, Marie Anne ^e   Milh, Mathieu ^f   Joriot, Sylvie ^g   Des Portes, Vincent ^h   Philip, Nicole ⁱ   Broglin, Dominique ^j   Roubertie, Agathe ^k   Pitelet, Gaelle ^l   Moutard, Marie Laure ^m   Pinard, Jean Marc ⁿ   Cances, Claude ^o   Kaminska, Anna ^c,p   Chelly, Jamel ^a,b   Beldjord, Chérif ^a,b   Bahi Buisson, Nadia ^a,c,p   more..

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b INSTITUT COCHIN   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d DIF   (France)

^e Centre de Pediatrie Clocheville   (France)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE MARSEILLE   (France)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h HOSPICES CIVILS DE LYON   (France)

ⁱ TIMONE HOSPITAL   (France)

^j CENTRE SAINT PAUL   (France)

^k MONTPELLIER UNIVERSITY HOSPITAL   (France)

^l UNIVERSITY HOSPITAL OF NICE   (France)

^m ARMAND TROUSSEAU HOSPITAL   (France)

ⁿ RAYMOND POINCARÉ HOSPITAL   (France)

^o HÔPITAL DES ENFANTS   (France)

^p INSERM   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGYRIA; ARTICLE; CHILD; CORPUS CALLOSUM; DISEASE SEVERITY; EPILEPSY; FEMALE; GENE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; LIS1 GENE; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; NEUROMUSCULAR DISEASE; NEWBORN; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PACHYGYRIA; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; SCHOOL CHILD; SEIZURE;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; ADOLESCENT; ADULT; BRAIN; CHILD; CHILD, PRESCHOOL; CLASSICAL LISSENCEPHALIES AND SUBCORTICAL BAND HETEROTOPIAS; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; NEUROLOGIC EXAMINATION; PHENOTYPE; YOUNG ADULT;

EID: 68549096366     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2009.149     Document Type: Article

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