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Article

Folinic Acid Responsive Epilepsy in Ohtahara Syndrome Caused by STXBP1 Mutation

24 Oct 2013

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 24315539
DOI: 10.1016/j.pediatrneurol.2013.10.006

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Folinic Acid Responsive Epilepsy in Ohtahara Syndrome Caused by STXBP1 MutationPMID 24315539Read ↗

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.Semantic proximity Read ↗

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.Semantic proximity Read ↗

[Topics of brain malformation and epilepsy--age-dependent epileptic encephalopathies and interneuronopathies].Semantic proximity Read ↗

Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.Semantic proximity Read ↗

De novo GABRA1 mutations in Ohtahara and West syndromesSemantic proximity Read ↗

[Successful treatment with levetiracetam in a case of Ohtahara syndrome caused by STXBP1 mutation].Semantic proximity Read ↗

A rare case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation.Semantic proximity Read ↗

A novel HLXB9 mutation in a Chinese family with Currarino syndrome.Semantic proximity Read ↗

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and miceSemantic proximity Read ↗

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.Semantic proximity Read ↗

A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and functionSemantic proximity Read ↗

SCN9A Epileptic Encephalopathy Mutations Display a Gain-of-function Phenotype and Distinct Sensitivity to OxcarbazepineSemantic proximity Read ↗

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