MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY

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Summary

Literature (2)

Literature for OMIM 606369: MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY

Xenbase Articles:
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The human NMDA receptor GluN2AN615K variant influences channel blocker potency., Marwick KFM,Skehel PA,Hardingham GE,Wyllie DJA, Pharmacol Res Perspect. August 1, 2019; 7(4):.
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations., Cameron JM,Maljevic S,Nair U,Aung YH,Cogné B,Bézieau S,Blair E,Isidor B,Zweier C,Reis A,Koenig MK,Maarup T,Sarco D,Afenjar A,Huq AHMM,Kukolich M,Billette de Villemeur T,Nava C,Héron B,Petrou S,Berkovic SF, Ann Clin Transl Neurol. July 1, 2019; 6(7):2328-9503.

The human NMDA receptor GluN2AN615K variant influences channel blocker potency., Marwick KFM,Skehel PA,Hardingham GE,Wyllie DJA, Pharmacol Res Perspect. August 1, 2019; 7(4):.

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations., Cameron JM,Maljevic S,Nair U,Aung YH,Cogné B,Bézieau S,Blair E,Isidor B,Zweier C,Reis A,Koenig MK,Maarup T,Sarco D,Afenjar A,Huq AHMM,Kukolich M,Billette de Villemeur T,Nava C,Héron B,Petrou S,Berkovic SF, Ann Clin Transl Neurol. July 1, 2019; 6(7):2328-9503.