Literature DB >> 29194067

Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.

Filomena T Papa1, Maria M Mancardi2, Elisa Frullanti1, Chiara Fallerini1, Veronica Della Chiara1, Laura Zalba-Jadraque3, Margherita Baldassarri1,4, Alessandra Gamucci5, Francesca Mari1,4, Edvige Veneselli6, Alessandra Renieri1,4.   

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Year:  2018        PMID: 29194067     DOI: 10.1097/MCD.0000000000000205

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


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  5 in total

1.  Integrative analysis of expression profile indicates the ECM receptor and LTP dysfunction in the glioma-related epilepsy.

Authors:  Zhi-Bin Wang; Jian Qu; Pan Xie; Zhi-Quan Yang; Chen-Xue Mao; Ying Zhang; Zheng-Wen He; Zhuan-Yi Yang; Xiao-Yuan Mao; Zhao-Qian Liu
Journal:  BMC Genomics       Date:  2022-06-08       Impact factor: 4.547

Review 2.  Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.

Authors:  Eva M M Hoytema van Konijnenburg; Saskia B Wortmann; Marina J Koelewijn; Laura A Tseng; Roderick Houben; Sylvia Stöckler-Ipsiroglu; Carlos R Ferreira; Clara D M van Karnebeek
Journal:  Orphanet J Rare Dis       Date:  2021-04-12       Impact factor: 4.123

3.  Interactome overlap between risk genes of epilepsy and targets of anti-epileptic drugs.

Authors:  Yu-Qin Lv; Xing Wang; Yu-Zhuang Jiao; Yan-Hua Wang; Na Wang; Lei Gao; Jing-Jun Zhang
Journal:  PLoS One       Date:  2022-08-25       Impact factor: 3.752

Review 4.  From bedside-to-bench: What disease-associated variants are teaching us about the NMDA receptor.

Authors:  Johansen B Amin; Gabrielle R Moody; Lonnie P Wollmuth
Journal:  J Physiol       Date:  2020-04-09       Impact factor: 5.182

Review 5.  New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment.

Authors:  Antonella Riva; Alice Golda; Ganna Balagura; Elisabetta Amadori; Maria Stella Vari; Gianluca Piccolo; Michele Iacomino; Simona Lattanzi; Vincenzo Salpietro; Carlo Minetti; Pasquale Striano
Journal:  Front Neurol       Date:  2021-12-07       Impact factor: 4.003

  5 in total

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