Literature DB >> 7625544

Hyperekplexia, a cause of neonatal apnea: a case report.

J L Gherpelli1, A R Nogueira, E J Troster, A D Deutsch, C R Leoné, M W Brotto, A Diament, J L Ramos.   

Abstract

We report a case of non-familial hyperekplexia which characteristically developed apnea and feeding difficulties in the neonatal period. The abnormal startle response was evident from the second week of life onwards. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam. Clobazam was also tried with no apparent response. A prominent long latency C response was observed on EMG examination, suggesting a possible cortical neuronal hyperexcitability origin for the abnormal startle response observed in hyperekplexia.

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Year:  1995        PMID： 7625544     DOI： 10.1016/0387-7604(94)00113-c

Source DB:  PubMed          Journal:  Brain Dev        ISSN： 0387-7604            Impact factor:   1.961


  7 in total

1.  Congenital hyperekplexia: five sporadic cases.

Authors:  Serge Rivera; Frédéric Villega; Anne de Saint-Martin; Jacqueline Matis; Benoît Escande; Denys Chaigne; Dominique Astruc
Journal:  Eur J Pediatr       Date:  2005-10-07       Impact factor: 3.183

Review 2.  Hyperekplexia in neonates.

Authors:  V Praveen; S K Patole; J S Whitehall
Journal:  Postgrad Med J       Date:  2001-09       Impact factor: 2.401

Review 3.  Movement disorder emergencies.

Authors:  Steven J Frucht
Journal:  Curr Neurol Neurosci Rep       Date:  2005-07       Impact factor: 5.081

Review 4.  New treatment paradigms in neonatal metabolic epilepsies.

Authors:  P L Pearl
Journal:  J Inherit Metab Dis       Date:  2009-02-24       Impact factor: 4.982

Review 5.  Movement disorder emergencies.

Authors:  Kathleen L Poston; Steven J Frucht
Journal:  J Neurol       Date:  2008-08       Impact factor: 4.849

Review 6.  Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.

Authors:  Li Cao; Xiaojun Huang; Ning Wang; Zhiying Wu; Cheng Zhang; Weihong Gu; Shuyan Cong; Jianhua Ma; Ling Wei; Yanchun Deng; Qi Fang; Qi Niu; Jin Wang; Zhaoxia Wang; You Yin; Jinyong Tian; Shufen Tian; Hongyan Bi; Hong Jiang; Xiaorong Liu; Yang Lü; Meizhen Sun; Jianjun Wu; Erhe Xu; Tao Chen; Tao Chen; Xu Chen; Wei Li; Shujian Li; Qinghua Li; Xiaonan Song; Ying Tang; Ping Yang; Yun Yang; Min Zhang; Xiong Zhang; Yuhu Zhang; Ruxu Zhang; Yi Ouyang; Jintai Yu; Quanzhong Hu; Qing Ke; Yuanrong Yao; Zhe Zhao; Xiuhe Zhao; Guohua Zhao; Furu Liang; Nan Cheng; Jianhong Han; Rong Peng; Shengdi Chen; Beisha Tang
Journal:  Transl Neurodegener       Date:  2021-02-16       Impact factor: 8.014

7.  A novel syndrome of lethal familial hyperekplexia associated with brain malformation.

Authors:  Mohammed Zein Seidahmed; Mustafa A Salih; Omer B Abdulbasit; Meeralebbae Shaheed; Khalid Al Hussein; Abeer M Miqdad; Abdullah K Al Rasheed; Anas M Alazami; Ibrahim A Alorainy; Fowzan S Alkuraya
Journal:  BMC Neurol       Date:  2012-10-27       Impact factor: 2.474
  7 in total

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