Cerebral palsy and seizures in a child with tubulinopathy pattern dysgenesis and focal cortical dysplasia

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Cerebral palsy and seizures in a child with tubulinopathy pattern dysgenesis and focal cortical dysplasia

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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name

Cerebral palsy and seizures in ...... s and focal cortical dysplasia

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Cerebral palsy and seizures in ...... s and focal cortical dysplasia

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type

Item

label

Cerebral palsy and seizures in ...... s and focal cortical dysplasia

@en

Cerebral palsy and seizures in ...... s and focal cortical dysplasia

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Cerebral palsy and seizures in ...... s and focal cortical dysplasia

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Cerebral palsy and seizures in ...... s and focal cortical dysplasia

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P1476

Cerebral palsy and seizures in ...... s and focal cortical dysplasia

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P2093

Dennis W W Shaw

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Kevin M Sweet

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Teresa Chapman

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P2860

A developmental and genetic classification for malformations of cortical development: update 2012

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

P304

396-400

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scholarly article

case report

P356

10.1016/J.RADCR.2016.12.008

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P433

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P478

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P577

2017-01-30T00:00:00Z

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P698

28491196

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P932

5417618

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