Literature DB >> 31242539

Early juvenile Tay-Sachs disease with atypical symptoms.

Mihoko Sakurai1, Junji Azuma1, Yusuke Hamada2, Takehisa Yamamoto1, Norio Sakai3.   

Abstract

Entities:  

Keywords:  Tay-Sachs disease; cerebral atrophy; epilepsy; juvenile GM2 gangliosidosis; perampanel

Mesh：

Year:  2019        PMID： 31242539     DOI： 10.1111/ped.13848

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  2 in total

1.  Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.

Authors:  Jayesh Sheth; Ira Mohapatra; Gangotri Patra; Riddhi Bhavsar; Chandni Patel; Siddharth Shah; Aadhira Nair
Journal:  Ann Indian Acad Neurol       Date:  2022-01-05       Impact factor: 1.714

2.  Exploring the Evidence for Broad-Spectrum Effectiveness of Perampanel: A Systematic Review of Clinical Data in Generalised Seizures.

Authors:  Eugen Trinka; Simona Lattanzi; Kate Carpenter; Tommaso Corradetti; Bruna Nucera; Fabrizio Rinaldi; Rohit Shankar; Francesco Brigo
Journal:  CNS Drugs       Date:  2021-07-07       Impact factor: 5.749
  2 in total

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