CHD2 mutations: Only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation

被引：13
|
作者：
Bernardo, Pia [1 ]
Galletta, Diana [2 ,3 ]
Iasevoli, Felice [2 ,3 ]
D'Ambrosio, Luigi [2 ,3 ]
Troisi, Serena [4 ]
Gennaro, Elena [5 ]
Zara, Federico [6 ]
Striano, Salvatore [4 ]
de Bartolomeis, Andrea [2 ,3 ]
Coppola, Antonietta [4 ]
机构：
[1] Univ Campania Luigi Vanvitelli, Dept Mental Hlth Phys & Prevent Med, Clin Child & Adolescent Neuropsychiat, Via Pansini 5, I-80131 Naples, Italy
[2] Univ Sch Med Federico II, Sect Psychiat, Unit Treatment Resistant Psychosis, Naples, Italy
[3] Univ Sch Med Federico II, Lab Mol & Translat Psychiat, Dept Neurosci, Naples, Italy
[4] Univ Naples Federico II, Epilepsy Ctr, Dept Neurosci Reprod & Odontostomatol Sci, Naples, Italy
[5] EO Osped Galliera, Genet Lab, Genoa, Italy
[6] Univ Genoa, G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
来源：
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2017年 / 51卷
关键词：
CHD2; gene; Genetic epilepsy; Intellectual disability; behavioral; Psychiatric profile;
D O I：
10.1016/j.seizure.2017.09.001
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：186 / 189
页数：4
相关论文
共 25 条
  • [1] A new CHD2 variant: not only severe epilepsy—a case report
    Benedetta Piccolo
    Elena Gennaro
    Francesco Pisani
    [J]. Acta Neurologica Belgica, 2022, 122 : 1653 - 1656
  • [2] A new CHD2 variant: not only severe epilepsy-a case report
    Piccolo, Benedetta
    Gennaro, Elena
    Pisani, Francesco
    [J]. ACTA NEUROLOGICA BELGICA, 2022, 122 (06) : 1653 - 1656
  • [3] Photosensitive Epilepsy Associated With CHD2 Mutation
    Nogovitsyn, V.
    Sharkov, A.
    [J]. EPILEPSIA, 2018, 59 : S192 - S193
  • [4] Juvenile myoclonic epilepsy mimic associated with CHD2 gene mutation
    Singh, Neeraj
    Ritaccio, Anthony
    [J]. EPILEPSY & BEHAVIOR REPORTS, 2020, 13
  • [5] Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy
    Feng Weixing
    Fang Fang
    Wang Xiaohui
    Chen Chunhong
    Lu Junlan
    Deng Jie
    [J]. 儿科学研究(英文), 2022, (02) : 93 - 99
  • [6] Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy
    Feng, Weixing
    Fang, Fang
    Wang, Xiaohui
    Chen, Chunhong
    Lu, Junlan
    Deng, Jie
    [J]. PEDIATRIC INVESTIGATION, 2022, 6 (02) : 93 - 99
  • [7] Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy
    You, Cuiping
    Xu, Liyun
    Zhu, Liping
    Qiu, Shiyan
    Xu, Na
    Wang, Yanyan
    Yang, Li
    [J]. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2024, 121 : 38 - 44
  • [8] DO CHD2 GENE MUTATIONS DETERMINE MYOCLONO- ASTATIC EPILEPSY?
    Barcia, G.
    Kaminska, A.
    Boddaert, N.
    Chemaly, N.
    Colleaux, L.
    Dulac, O.
    Nabbout, R.
    [J]. EPILEPSIA, 2014, 55 : 221 - 222
  • [9] CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures
    Trivisano, Marina
    Striano, Pasquale
    Sartorelli, Jacopo
    Giordano, Lucio
    Traverso, Monica
    Accorsi, Patrizia
    Cappelletti, Simona
    Claps, Dianela Judith
    Vigevano, Federico
    Zara, Federico
    Specchio, Nicola
    [J]. EPILEPSY & BEHAVIOR, 2015, 51 : 53 - 56
  • [10] Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: Two novel mutations and review of the literature
    Camacho, Ana
    Simon, Rogelio
    Sanz, Raul
    Vinuela, Antonio
    Martinez-Salio, Antonio
    Mateos, Fernando
    [J]. EPILEPSY & BEHAVIOR, 2012, 24 (01) : 134 - 137
123