Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

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Genome annotation for clinical genomic diagnostics: strengths and weaknesses Genetic Testing in Pediatric Epilepsy.Warning SINEs: Alu elements, evolution of the human brain, and the spectrum of neurological disease.RNA Editing and Retrotransposons in Neurology.

P2860

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P2860

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

Intragenic deletions of ALDH7A ...... used by Alu-Alu recombination.

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Intragenic deletions of ALDH7A ...... used by Alu-Alu recombination.

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type

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Intragenic deletions of ALDH7A ...... used by Alu-Alu recombination.

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Intragenic deletions of ALDH7A ...... used by Alu-Alu recombination.

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prefLabel

Intragenic deletions of ALDH7A ...... used by Alu-Alu recombination.

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Intragenic deletions of ALDH7A ...... used by Alu-Alu recombination.

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P1476

Intragenic deletions of ALDH7A ...... aused by Alu-Alu recombination

@en

P2093

Barbara Plecko

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Douglas R Nordli

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Eileen Geraghty

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Heather C Mefford

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Joseph Cook

http://www.w3.org/2001/XMLSchema#string

Karl Paul

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Matthew Zemel

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Peter T Clayton

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Sidney M Gospe

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P2860

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.

Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.

Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.

Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.

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756-762

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scholarly article

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10.1212/WNL.0000000000001883

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English

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Philippa B Mills

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2015-07-29T00:00:00Z

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26224730

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4553021

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Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

about

P2860

P2860

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932