Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Conti, Valerio; Carabalona, Aurelie; Pallesi-Pocachard, Emilie; Parrini, Elena; Leventer, Richard J; Buhler, Emmanuelle; McGillivray, George; Michel, François J; Striano, Pasquale; Mei, Davide; Watrin, Françoise; Lise, Stefano; Pagnamenta, Alistair T; Taylor, Jenny C; Kini, Usha; Clayton-Smith, Jill; Novara, Francesca; Zuffardi, Orsetta; Dobyns, William B; Scheffer, Ingrid E; Robertson, Stephen P; Berkovic, Samuel F; Represa, Alfonso; Keays, David A; Cardoso, Carlos; Guerrini, Renzo

Conti, Valerio; Carabalona, Aurelie; Pallesi-Pocachard, Emilie; Parrini, Elena; Leventer, Richard J; Buhler, Emmanuelle; McGillivray, George; Michel, François J; Striano, Pasquale; Mei, Davide; Watrin, Françoise; Lise, Stefano; Pagnamenta, Alistair T; Taylor, Jenny C; Kini, Usha; Clayton-Smith, Jill; Novara, Francesca; Zuffardi, Orsetta; Dobyns, William B; Scheffer, Ingrid E; Robertson, Stephen P; Berkovic, Samuel F; Represa, Alfonso; Keays, David A; Cardoso, Carlos; Guerrini, Renzo.

Affiliation

Conti V; 1 Paediatric Neurology and Neurogenetics Unit and Laboratories, A. Meyer Children's Hospital - Department of Neuroscience, Pharmacology and Child Health, University of Florence, 50139, Florence, Italy.

Brain ; 136(Pt 11): 3378-94, 2013 Nov.

Article in En | MEDLINE | ID: mdl-24056535

Subject(s)

Abnormalities, Multiple/genetics; Brain/abnormalities; Malformations of Cortical Development, Group II/genetics; Periventricular Nodular Heterotopia/genetics; Abnormalities, Multiple/pathology; Abnormalities, Multiple/physiopathology; Adolescent; Adult; Animals; Brain/pathology; Brain/physiopathology; Child; Chromosome Deletion; Chromosomes, Human, Pair 6/genetics; Cohort Studies; Developmental Disabilities/genetics; Epilepsy/genetics; Exome/genetics; Female; Haploinsufficiency/genetics; Humans; Infant; Magnetic Resonance Imaging; Male; Malformations of Cortical Development, Group II/pathology; Malformations of Cortical Development, Group II/physiopathology; Mutation/genetics; Periventricular Nodular Heterotopia/pathology; Periventricular Nodular Heterotopia/physiopathology; Rats; Rats, Wistar; Syndrome

Key words

6q terminal deletion syndrome; C6orf70 gene; brain malformations; epilepsy; periventricular nodular heterotopia

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Brain / Malformations of Cortical Development, Group II / Periventricular Nodular Heterotopia Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Animals / Child / Female / Humans / Infant / Male Language: En Journal: Brain Year: 2013 Document type: Article Affiliation country: Italy Country of publication: United kingdom

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google