A Novel MT-TW Gene Mutation Associated with Suspected Pyridoxine-Responsive Epilepsy

被引：0
|
作者：
Elaasar, H.
Tuttrup, G.
Pence, K.
机构：
来源：
ANNALS OF NEUROLOGY | 2025年 / 96卷
关键词：
Neurogenetics; Epilepsy; Neonatal Neurology;
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
220
引用
收藏
页码：S105 / S105
页数：1
相关论文
共 50 条
  • [41] Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene
    Tlili, Abdelaziz
    Hentati, Nadia Hamida
    Chaabane, Rim
    Gargouri, Abdellatif
    Fakhfakh, Faiza
    GENE, 2013, 518 (02) : 242 - 245
  • [42] NOVEL MUTATION OF ALAS2 IN CONGENITAL SIDEROBLASTIC ANEMIA NON-RESPONSIVE TO PYRIDOXINE - NEXT BMT
    Chinga, Michell Lozano
    Maher, Ossama
    Rodriguez, Adriana
    Garcia, Maria Lopez
    Galvez, Jorge
    PEDIATRIC BLOOD & CANCER, 2019, 66
  • [43] A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathy
    Jeppesen, Tina Dysgaard
    Duno, Morten
    Risom, Lotte
    Wibrand, Flemming
    Rafiq, Jabin
    Krag, Thomas
    Jakobsen, Johannes
    Andersen, Henning
    Vissing, John
    NEUROMUSCULAR DISORDERS, 2014, 24 (02) : 162 - 166
  • [44] A novel mutation of CGK gene in patient with Diazoxide responsive congenital hyperinsulinism
    Kherra, Sakina
    Ouarezki, Yasmine
    Bellouti, Sihem
    Sahli, Hassiba
    Sifour, Latifa
    Zeroual, Zoulikha
    Flanagan, Sarah
    HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 491 - 491
  • [45] An A8296G mutation in the MT-TK gene of a patient with epilepsy -: a disease-causing mutation or rare polymorphism?
    Ahadi, All Mohammad
    Sadeghizadeh, Majid
    Houshmand, Massoud
    Gharagoozli, Kurosh
    Banoei, Mohammad Mehdi
    Ponahai, Mehdi Shafa Shariat
    NEUROLOGIA I NEUROCHIRURGIA POLSKA, 2008, 42 (03) : 263 - 266
  • [46] Novel Mutation In The APT13A2 Gene Associated With Ataxia, Cerebellar Tremor, Bipolar Disease and Epilepsy
    Yousaf, Muhammad Ismail Khalid
    Rosa, Talita D'Aguiar
    Ghani, Mohammad Ravi
    Hedera, Peter
    NEUROLOGY, 2023, 100 (17)
  • [47] MYOCLONIC EPILEPSY AS A MAJOR SYMPTOM OF A NOVEL MUTATION IN THE MITOCHONDRIAL TRNAILEU GENE
    Weber, Y. G.
    Gdynia, H. J.
    Zsurka, G.
    Kunz, W. S.
    Lerche, H.
    EPILEPSIA, 2010, 51 : 33 - 34
  • [48] Nonsense mutation in DEPDC5 gene in a patient with carbamazepine-responsive focal epilepsy
    Mulkerrin, Grainne
    Hennessy, Michael J.
    EPILEPSY & BEHAVIOR REPORTS, 2024, 27
  • [49] Novel epilepsy phenotype associated to a known SCN8A mutation
    Epifanio, Roberta
    Zanotta, Nicoletta
    Giorda, Roberto
    Bardoni, Alessandra
    Zucca, Claudio
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2019, 67 : 15 - 17
  • [50] Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)
    Engvall, Martin
    Kawasaki, Aki
    Carelli, Valerio
    Wibom, Rolf
    Bruhn, Helene
    Lesko, Nicole
    Schober, Florian A.
    Wredenberg, Anna
    Wedell, Anna
    Traisk, Frank
    FRONTIERS IN NEUROLOGY, 2021, 12
12345