Bilateral periventricular nodular heterotopia in France: Frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 80, Issue 12, 2009, Pages 1394-1398

  Sole G ^a,b   Coupry, I ^a   Rooryck, C ^a,b   Guerineau E ^a   Martins, F ^a   Deves S ^b   Hubert, C ^a   Souakri, N ^a   Boute, O ^c   Marchal, C ^b   Faivre, L ^d   Landre E ^e   Debruxelles, S ^b   Dieux Coeslier, A ^c   Boulay, C ^f   Chassagnon, S ^g   Michel, V ^b   Routon, M C ^h   Toutain, A ⁱ   Philip, N ^j   Lacombe, D ^a,b   Villard, L ^k   Arveiler, B ^a,b   Goizet, C ^a,b   more..

^a UNIVERSITÉ DE BORDEAUX   (France)

^b HÔPITAL PELLEGRIN   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d Medical University of Dijon   (France)

^e CENTRE HOSPITALIER SAINTE ANNE   (France)

^f CENTRE HOSPITALIER DE MULHOUSE   (France)

^g UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^h Service de Pédiatrie et de Néonatologie   (France)

ⁱ CHU BRETONNEAU   (France)

^j TIMONE HOSPITAL   (France)

^k INSERM   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN A;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; FLNA GENE; FRANCE; GENE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MISSENSE MUTATION; MORPHOLOGICAL TRAIT; MUTATION RATE; NUCLEOTIDE SEQUENCE; PERIVENTRICULAR HETEROTOPIA; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONTRACTILE PROTEINS; FEMALE; FRANCE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PERIVENTRICULAR NODULAR HETEROTOPIA; PHENOTYPE; POINT MUTATION; YOUNG ADULT;

EID: 72449135841     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.162263     Document Type: Article

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