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

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

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Clinical Guidelines and Recommendations S Stockler, B Plecko, SM Gospe Jr… - Molecular genetics and …, 2011 - Elsevier

Chapter : Section2
Journal Year : 2011
Cited by : 305

… The underlying genetic defect remained unknown for a long time and diagnosis was limited to the demonstration of seizure remission and relapse after a controlled trial of pyridoxine …..... Read More

Keywords : ['pyridoxine dependent epilepsy', 'antiquitin deficiency clinical', 'molecular characteristic', 'diagnosis treatment', 'recommendation', 'followup']
PubMed Link : https://www.sciencedirect.com/science/article/pii/S1096719211001661
Google Scholar Link : https://scholar.google.com/scholar?cites=391660510804059163&as_sdt=5,44&sciodt=0,44&hl=en&num=20