TY - JOUR
T1 - KCTD7-related progressive myoclonic epilepsy
T2 - Report of three Indian families and review of literature
AU - Narayanan, Dhanya Lakshmi
AU - Somashekar, Puneeth H.
AU - Majethia, Purvi
AU - Shukla, Anju
N1 - Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2022/1/1
Y1 - 2022/1/1
N2 - Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM# 611726) is a rare autosomal recessive condition associated with pathogenic variants in KCTD7, which encodes the BR-C,ttk and bab/pox virus and zinc finger domain-containing KCTD7 protein. We report four individuals from three Indian families presenting with an initial period of normal development, progressive myoclonic seizures followed by neuroregression and an abnormal electroencephalogram. We identified two novel missense variants, c.458G>C p.(Arg153Pro) and c.205C>G p.(Leu69Val) and one known disease-causing variant, c.280C>T p.(Arg94Trp) in KCTD7 by exome sequencing. We review the literature of 67 individuals with variants in KCTD7. Our study expands the molecular spectrum of KCTD7-related progressive myoclonic epilepsy.
AB - Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM# 611726) is a rare autosomal recessive condition associated with pathogenic variants in KCTD7, which encodes the BR-C,ttk and bab/pox virus and zinc finger domain-containing KCTD7 protein. We report four individuals from three Indian families presenting with an initial period of normal development, progressive myoclonic seizures followed by neuroregression and an abnormal electroencephalogram. We identified two novel missense variants, c.458G>C p.(Arg153Pro) and c.205C>G p.(Leu69Val) and one known disease-causing variant, c.280C>T p.(Arg94Trp) in KCTD7 by exome sequencing. We review the literature of 67 individuals with variants in KCTD7. Our study expands the molecular spectrum of KCTD7-related progressive myoclonic epilepsy.
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U2 - 10.1097/MCD.0000000000000394
DO - 10.1097/MCD.0000000000000394
M3 - Review article
C2 - 34866617
AN - SCOPUS:85121031681
SN - 0962-8827
VL - 31
SP - 6
EP - 10
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
IS - 1
ER -