Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a SCN1B Variant

被引:5
作者
Dang, Louis T. [1 ]
Quinonez, Shane C. [2 ]
Becka, Bridget R. [1 ]
Isom, Lori L. [3 ,4 ,5 ,6 ]
Joshi, Sucheta M. [1 ]
机构
[1] Michigan Med, Dept Pediat, Div Pediat Neurol, Ann Arbor, MI USA
[2] Michigan Med, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI USA
[3] Michigan Med, Dept Pharmacol, Ann Arbor, MI USA
[4] Michigan Med, Dept Neurol, Ann Arbor, MI USA
[5] Michigan Med, Dept Mol, Ann Arbor, MI USA
[6] Michigan Med, Dept Integrat Physiol, Ann Arbor, MI USA
关键词
Genetic epilepsy; SCN1B; Sodium channel; Generalized epilepsy with febrile seizures plus; GENERALIZED EPILEPSY; FEBRILE SEIZURES;
D O I
10.1016/j.pediatrneurol.2020.03.012
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:121 / 122
页数:2
相关论文
共 6 条
  • [1] SCN1B-linked early infantile developmental and epileptic encephalopathy
    Aeby, Alec
    Sculier, Claudine
    Bouza, Alexandra A.
    Askar, Brandon
    Lederer, Damien
    Schoonjans, Anne-Sofie
    Vander Ghinst, Marc
    Ceulemans, Berten
    Offord, James
    Lopez-Santiago, Luis F.
    Isom, Lori L.
    [J]. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2019, 6 (12): : 2354 - 2367
  • [2] Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B
    Darras, Natasha
    Ha, Thoa K.
    Rego, Shannon
    Martin, Pierre-Marie
    Barroso, Eva
    Slavotinek, Anne M.
    Cilio, Maria R.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (11) : 2190 - 2195
  • [3] Sodium Channel β Subunits: Emerging Targets in Channelopathies
    O'Malley, Heather A.
    Isom, Lori L.
    [J]. ANNUAL REVIEW OF PHYSIOLOGY, VOL 77, 2015, 77 : 481 - 504
  • [4] Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
    Scheffer, Ingrid E.
    Harkin, Louise A.
    Grinton, Bronwyn E.
    Dibbens, Leanne M.
    Turner, Samantha J.
    Zielinski, Marta A.
    Xu, Ruwei
    Jackson, Graeme
    Adams, Judith
    Connellan, Mary
    Petrou, Steven
    Wellard, R. Mark
    Briellmann, Regula S.
    Wallace, Robyn H.
    Mulley, John C.
    Berkovic, Samuel F.
    [J]. BRAIN, 2007, 130 : 100 - 109
  • [5] Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B
    Wallace, RH
    Wang, DW
    Singh, R
    Scheffer, IE
    George, AL
    Phillips, HA
    Saar, K
    Reis, A
    Johnson, EW
    Sutherland, GR
    Berkovic, SF
    Mulley, JC
    [J]. NATURE GENETICS, 1998, 19 (04) : 366 - 370
  • [6] Generalized epilepsy with febrile seizures plus-associated sodium channel β1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function
    Xu, R.
    Thomas, E. A.
    Gazina, E. V.
    Richards, K. L.
    Quick, M.
    Wallace, R. H.
    Harkin, L. A.
    Heron, S. E.
    Berkovic, S. F.
    Scheffer, I. E.
    Mulley, J. C.
    Petrou, S.
    [J]. NEUROSCIENCE, 2007, 148 (01) : 164 - 174