The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.

Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK

Open source

DOI: 10.1002/jimd.12045
Published: 2019 Mar
Container: Journal of inherited metabolic disease
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/jimd.12045,
  title = {The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.},
  author = {Coughlin CR 2nd and Swanson MA and Spector E and Meeks NJL and Kronquist KE and Aslamy M and Wempe MF and van Karnebeek CDM and Gospe SM Jr and Aziz VG and Tsai BP and Gao H and Nagy PL and Hyland K and van Dooren SJM and Salomons GS and Van Hove JLK},
  year = {2019},
  journal = {Journal of inherited metabolic disease},
  doi = {10.1002/jimd.12045},
  url = {https://doi.org/10.1002/jimd.12045}
}

RIS

TY  - JOUR
TI  - The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
AU  - Coughlin CR 2nd
AU  - Swanson MA
AU  - Spector E
AU  - Meeks NJL
AU  - Kronquist KE
AU  - Aslamy M
AU  - Wempe MF
AU  - van Karnebeek CDM
AU  - Gospe SM Jr
AU  - Aziz VG
AU  - Tsai BP
AU  - Gao H
AU  - Nagy PL
AU  - Hyland K
AU  - van Dooren SJM
AU  - Salomons GS
AU  - Van Hove JLK
PY  - 2019
JO  - Journal of inherited metabolic disease
DO  - 10.1002/jimd.12045
UR  - https://doi.org/10.1002/jimd.12045
ER  -

APA

2nd, C. C., MA, S., E, S., NJL, M., KE, K., M, A., MF, W., CDM, V. K., Jr, G. S., VG, A., BP, T., H, G., PL, N., K, H., SJM, V. D., GS, S., & JLK, V. H. (2019). The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.. Journal of inherited metabolic disease. https://doi.org/10.1002/jimd.12045

Source records

pubmed · retrieved 2026-09-26T18:47:47.316Z