Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder.

Autor: Alzayed NT; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alzuabi AH; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alqusaimi RA; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., El-Anany EA; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alholle A; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Aboelanine AH; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Omar S; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alsafi R; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Elmonairy AA; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alali FJ; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alahmad A; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alsharhan H; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Albash B; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Marafi D; From the College of Medicine (N.T.A., A.H. Alzuabi, R.A.A.), Health Science Center, Kuwait University; Section of Child Neurology (E.A.E.-A., D.M.), Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya; Kuwait Medical Genetics Centre (A. Alholle, A.H. Aboelanine, S.O., A.A.E., F.J.A., A. Alahmad, H.A., D.M.), Ministry of Health, Sulaibikhat; Department of Pediatrics (R.A., B.A.), Adan Hospital, Ministry of Health, Hadiya; Department of Pediatrics (H.A., D.M.), College of Medicine, Kuwait University, Safat; and Department of Pediatrics (H.A.), Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.

Publikováno v: Neurology. Genetics [Neurol Genet] 2024 May 22; Vol. 10 (3), pp. e200156. Date of Electronic Publication: 2024 May 22 (Print Publication: 2024).