Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature
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Title
Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature
Authors
Keywords
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Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 18, Issue 11, Pages 2273
Publisher
MDPI AG
Online
2017-10-31
DOI
10.3390/ijms18112273
References
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Related references
Note: Only part of the references are listed.- Tubulins and brain development – The origins of functional specification
- (2017) Martin W. Breuss et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- Malformations of cortical development
- (2016) Rahul S. Desikan et al. ANNALS OF NEUROLOGY
- Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
- (2016) Elena Parrini et al. HUMAN MUTATION
- Disorders of Microtubule Function in Neurons: Imaging Correlates
- (2015) C.A. Mutch et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
- (2015) Julia Lauer Zillhardt et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
- (2015) Hui Yang et al. Nature Protocols
- The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
- (2014) Nadia Bahi-Buisson et al. BRAIN
- Somatic Mutations in Cerebral Cortical Malformations
- (2014) Saumya S. Jamuar et al. NEW ENGLAND JOURNAL OF MEDICINE
- Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
- (2013) Karine Poirier et al. NATURE GENETICS
- Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
- (2012) Karine Poirier et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
- (2012) Gustav Y. Cederquist et al. HUMAN MOLECULAR GENETICS
- Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
- (2012) Martin Breuss et al. Cell Reports
- TUBA1A mutations: From isolated lissencephaly to familial polymicrogyria
- (2011) A. C. Jansen et al. NEUROLOGY
- Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
- (2010) Karine Poirier et al. HUMAN MOLECULAR GENETICS
- TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
- (2010) Ravinesh A. Kumar et al. HUMAN MOLECULAR GENETICS
- Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
- (2009) DJ Morris-Rosendahl et al. CLINICAL GENETICS
- The β-tubulin geneTUBB2Bis involved in a large spectrum of neuronal migration disorders
- (2009) V Uribe CLINICAL GENETICS
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