TY - JOUR AU - Seidahmed, Mohammed Zain AU - Salih, Mustafa A. AU - Abdulbasit, Omer B. AU - Samadi, Abdulmohsen AU - Al Hussien, Khalid AU - Miqdad, Abeer M. AU - Biary, Maha S. AU - Alazami, Anas M. AU - Alorainy, Ibrahim A. AU - Kabiraj, Mohammad M. AU - Shaheen, Ranad AU - Alkuraya, Fowzan S. PY - 2016 DA - 2016/07/15 TI - Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report JO - BMC Neurology SP - 105 VL - 16 IS - 1 AB - Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable seizures or hyperekplexia. Brain MRI typically shows cerebral atrophy with simplified gyral pattern and delayed myelination. Only 12 cases have been described to date. The disease is caused by homozygous or compound heterozygous mutations in the ASNS gene on chromosome 7q21. SN - 1471-2377 UR - https://doi.org/10.1186/s12883-016-0633-0 DO - 10.1186/s12883-016-0633-0 ID - Seidahmed2016 ER -