An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency
Ling Liu, Jing Wang, Haiyu Li, Yan Dong, Ying Li, Lei Xia, Bo Yang, Handuo Wang, Yiran Xu, Guomei Cheng, Kaixian Du, Xiaoli Zhang, Changlian Zhu, Shihong Cui, Chenchen Ren
Topics & Concepts
Compound heterozygosityAsparagine synthetaseExome sequencingEpilepsyMutationMicrocephalyMedicineAsparaginePhenotypeDiseaseInternal medicinePediatricsGastroenterologyGeneticsGeneBiologyPsychiatryAmino acidAmino Acid Enzymes and MetabolismMetabolism and Genetic DisordersFolate and B Vitamins Research