Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Ratna Tripathy; Ines Leca; Tessa van Dijk; Janneke Weiss; Bregje W. van Bon; Maria Christina Sergaki; Thomas Gstrein; Martin Breuss; Guoling Tian; Nadia Bahi-Buisson; Alexander R. Paciorkowski; Alistair T. Pagnamenta; Andrea Wenninger-Weinzierl; Maria Fernanda Martinez-Reza; Lukas Landler; Stefano Lise; Jenny C. Taylor; Gaetano Terrone; Giuseppina Vitiello; Ennio Del Giudice; Nicola Brunetti-Pierri; Alessandra D’Amico; Alexandre Reymond; Norine Voisin; Jonathan A. Bernstein; Ellyn Farrelly; Usha Kini; Thomas A. Leonard; Stéphanie Valence; Lydie Burglen; Linlea Armstrong; Susan M. Hiatt; Gregory M. Cooper; Kimberly A. Aldinger; William B. Dobyns; Ghayda Mirzaa; Tyler Mark Pierson; Frank Baas; Jamel Chelly; Nicholas J. Cowan; David Anthony Keays

doi:10.1016/j.neuron.2018.10.044

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Neuron ◽

10.1016/j.neuron.2018.10.044 ◽

2018 ◽

Vol 100 (6) ◽

pp. 1354-1368.e5 ◽

Cited By ~ 9

Author(s):

Ratna Tripathy ◽

Ines Leca ◽

Tessa van Dijk ◽

Janneke Weiss ◽

Bregje W. van Bon ◽

...

Keyword(s):

Corpus Callosum ◽

Cerebellar Hypoplasia ◽

Cortical Malformations

Download Full-text

MAST1 variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.61560 ◽

2020 ◽

Vol 182 (6) ◽

pp. 1483-1490

Author(s):

María Elena Rodríguez‐García ◽

Francisco Javier Cotrina‐Vinagre ◽

María de los Ángeles Gómez‐Cano ◽

Ana Martínez de Aragón ◽

Elena Martín‐Hernández ◽

...

Keyword(s):

Corpus Callosum ◽

Cerebellar Hypoplasia ◽

Cortical Malformations

Download Full-text

Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2005.01.028 ◽

2005 ◽

Vol 48 (2) ◽

pp. 199-206 ◽

Cited By ~ 6

Author(s):

Joris Andrieux ◽

Louise Devisme ◽

Anne-Sylvie Valat ◽

Yann Robert ◽

Chrystele Frnka ◽

...

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Corpus Callosum ◽

Ring Chromosome ◽

Chromosome 6 ◽

Cerebellar Hypoplasia ◽

Review Of The Literature ◽

Agenesis Of Corpus Callosum ◽

Ring Chromosome 6

Download Full-text

Lissencephaly with Cerebellar Hypoplasia (LCH): A Heterogeneous Group of Cortical Malformations

Neuropediatrics ◽

10.1055/s-2001-19120 ◽

2001 ◽

Vol 32 (5) ◽

pp. 256-263 ◽

Cited By ~ 97

Author(s):

M. E. Ross ◽

K. Swanson ◽

W. B. Dobyns

Keyword(s):

Heterogeneous Group ◽

Cerebellar Hypoplasia ◽

Cortical Malformations

Download Full-text

Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature

Annales de Génétique ◽

10.1016/j.anngen.2004.11.005 ◽

2004 ◽

Author(s):

J ANDRIEUX ◽

L DEVISME ◽

A VALAT ◽

Y ROBERT ◽

C FRNKA ◽

...

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Corpus Callosum ◽

Ring Chromosome ◽

Chromosome 6 ◽

Cerebellar Hypoplasia ◽

Review Of The Literature ◽

Agenesis Of Corpus Callosum ◽

Ring Chromosome 6

Download Full-text

Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia

Acta Neuropathologica ◽

10.1007/s00401-003-0776-0 ◽

2004 ◽

Vol 107 (1) ◽

pp. 69-81 ◽

Cited By ~ 24

Author(s):

Hajime Miyata ◽

Dennis J. Chute ◽

James Fink ◽

Pablo Villablanca ◽

Harry V. Vinters

Keyword(s):

Corpus Callosum ◽

Cerebellar Hypoplasia ◽

Agenesis Of Corpus Callosum

Download Full-text

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

PLoS Genetics ◽

10.1371/journal.pgen.1003823 ◽

2013 ◽

Vol 9 (10) ◽

pp. e1003823 ◽

Cited By ~ 52

Author(s):

Samin A. Sajan ◽

Liliana Fernandez ◽

Sahar Esmaeeli Nieh ◽

Eric Rider ◽

Polina Bukshpun ◽

...

Keyword(s):

Corpus Callosum ◽

Copy Number ◽

De Novo ◽

Copy Number Variants ◽

Cerebellar Hypoplasia

Download Full-text

New Pachygyria Syndrome Linked to Actin Regulation Identified: When mutated, CTNNA2 leads to a new form of pachygyria that has a diffuse anterior-posterior gradient with cerebellar hypoplasia, thinning corpus callosum, and absent anterior commissure

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.60672 ◽

2018 ◽

Vol 176 (11) ◽

pp. 2234-2235

Keyword(s):

Corpus Callosum ◽

Anterior Commissure ◽

Cerebellar Hypoplasia ◽

New Form ◽

Anterior Posterior

Download Full-text

Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation

Brain and Development ◽

10.1016/j.braindev.2012.05.006 ◽

2013 ◽

Vol 35 (3) ◽

pp. 274-279 ◽

Cited By ~ 26

Author(s):

Akihisa Okumura ◽

Masaharu Hayashi ◽

Hiromichi Tsurui ◽

Yoko Yamakawa ◽

Shinpei Abe ◽

...

Keyword(s):

Corpus Callosum ◽

Cerebellar Hypoplasia ◽

Ventricular Dilation ◽

Agenesis Of Corpus Callosum

Download Full-text

Decision letter for "Comparative morphology of the corpus callosum across the adult lifespan in chimpanzees ( Pan troglodytes ) and humans"

10.1002/cne.25039/v1/decision1 ◽

2020 ◽

Keyword(s):

Corpus Callosum ◽

Pan Troglodytes ◽

Comparative Morphology ◽

Adult Lifespan

Download Full-text

Review for "Comparative morphology of the corpus callosum across the adult lifespan in chimpanzees ( Pan troglodytes ) and humans"

10.1002/cne.25039/v2/review1 ◽

2020 ◽

Keyword(s):

Corpus Callosum ◽

Pan Troglodytes ◽

Comparative Morphology ◽

Adult Lifespan

Download Full-text