Genetic malformations of the cerebral cortex and epilepsy (Q28243987)

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

Europe PubMed Central

title

Genetic malformations of the cerebral cortex and epilepsy (English)

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author

Renzo Guerrini

series ordinal

1

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language of work or name

English

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publication date

2005

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published in

Epilepsia

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volume

46 Suppl 1

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page(s)

32-7

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cites work

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2005.461010.X

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

21 April 2017

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Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

21 April 2017

1 reference

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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2005.461010.X

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 April 2017

1 reference

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A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

21 April 2017

1 reference

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Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

21 April 2017

1 reference

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Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1

21 April 2017

1 reference

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The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene

21 April 2017

1 reference

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An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21

21 April 2017

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Classification system for malformations of cortical development: update 2001.

21 April 2017

1 reference

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Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene

21 January 2018

1 reference

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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

21 January 2018

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Epilepsy and genetic malformations of the cerebral cortex

21 January 2018

1 reference

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Autosomal recessive form of periventricular heterotopia

21 January 2018

1 reference

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Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome

21 January 2018

1 reference

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Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation

21 January 2018

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Periventricular nodular heterotopia and intractable temporal lobe epilepsy: poor outcome after temporal lobe resection

21 January 2018

1 reference

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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations

21 January 2018

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Genetic and neuroradiological heterogeneity of double cortex syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

21 January 2018

1 reference

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Developmental dyslexia: four consecutive patients with cortical anomalies

21 January 2018

1 reference

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Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study

21 January 2018

1 reference

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Bilateral parasagittal parietooccipital polymicrogyria and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

A locus for bilateral perisylvian polymicrogyria maps to Xq28

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Polymicrogyria in chromosome 22 delection syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X