Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant

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Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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Successful treatment of choreo ...... nt with an EEF1A2 gene variant

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Successful treatment of choreo ...... nt with an EEF1A2 gene variant

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Successful treatment of choreo ...... nt with an EEF1A2 gene variant

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Successful treatment of choreo ...... nt with an EEF1A2 gene variant

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Successful treatment of choreo ...... nt with an EEF1A2 gene variant

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Successful treatment of choreo ...... nt with an EEF1A2 gene variant

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P1476

Successful treatment of choreo ...... nt with an EEF1A2 gene variant

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P2093

Ali Fatemi

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Harvey S Singer

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Julie S Cohen

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Martin Kronenbuerger

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Orion Furmanski

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P2860

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice

Structural models of human eEF1A1 and eEF1A2 reveal two distinct surface clusters of sequence variation and potential differences in phosphorylation.

The lethal mutation of the mouse wasted (wst) is a deletion that abolishes expression of a tissue-specific isoform of translation elongation factor 1alpha, encoded by the Eef1a2 gene

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

Dopamine depleters in the treatment of hyperkinetic movement disorders.

Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations.

Clinical application of whole-exome sequencing across clinical indications.

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.

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2050313X18807622

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scholarly article

case report

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10.1177/2050313X18807622

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English

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Eboni I Lance

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2018-10-24T00:00:00Z

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30377530

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6202747

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