Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

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Critical roles of αII spectrin in brain development and epileptic encephalopathy.Spectrin and its interacting partners in nuclear structure and function.

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P2860

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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name

Delineating SPTAN1 associated ...... ith progressive brain atrophy.

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Delineating SPTAN1 associated ...... ith progressive brain atrophy.

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type

Item

label

Delineating SPTAN1 associated ...... ith progressive brain atrophy.

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Delineating SPTAN1 associated ...... ith progressive brain atrophy.

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prefLabel

Delineating SPTAN1 associated ...... ith progressive brain atrophy.

@en

Delineating SPTAN1 associated ...... ith progressive brain atrophy.

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P1476

Delineating SPTAN1 associated ...... with progressive brain atrophy

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P2093

Alma Kuechler

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Andreas Merkenschlager

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Beate Albrecht

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Bobby Koeleman

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Bénédicte Heron

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Constanze Lämmer

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Cyril Mignot

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Domenica Battaglia

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Ellen van Binsbergen

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Francesco Mari

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P2860

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

SWISS-MODEL: An automated protein homology-modeling server

UCSF Chimera--a visualization system for exploratory research and analysis

Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation

Mapping the human erythrocyte beta-spectrin dimer initiation site using recombinant peptides and correlation of its phasing with the alpha-actinin dimer site

Spectrins: a structural platform for stabilization and activation of membrane channels, receptors and transporters.

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach.

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scholarly article

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10.1093/BRAIN/AWX195

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English

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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

about

P2860

P2860

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

description

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type

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