Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Michaella C. Richards"'
Autor:
Steven Petrou, David N. Bowser, Samuel F. Berkovic, Robyn H. Wallace, David A. Williams, Fiona Phillips, Rita Singh, Ingrid E. Scheffer, Louise A. Harkin, John C. Mulley, Leanne M. Dibbens, Michaella C. Richards
Publikováno v:
The American Journal of Human Genetics. 70(2):530-536
Recent findings from studies of two families have shown that mutations in the GABA(A)-receptor gamma2 subunit are associated with generalized epilepsies and febrile seizures. Here we describe a family that has generalized epilepsy with febrile seizur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0b07506cd565e83e34e250c4671abc5
Autor:
Alison L. Clarke, Michaella C. Richards, Samuel F. Berkovic, Leanne M. Dibbens, Bree L. Hodgson, Steve Petrou, Louise A. Harkin, Ingrid E. Scheffer, John C. Mulley
Rare GABAA receptor γ2 and α1 subunit mutations of pathogenic effect have been described segregating in families with “monogenic” epilepsies. We now report globally on the genetic variation contained within all 16 neuronal GABAA receptor subuni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e088b83813e607c38785560a0843702e
https://hdl.handle.net/1959.8/136021
https://hdl.handle.net/1959.8/136021
Autor:
Ingrid E. Scheffer, Steven Petrou, Samuel F. Berkovic, John C. Mulley, Leanne M. Dibbens, Robert L. Macdonald, Louise A. Harkin, Darren Scott, Michaella C. Richards, Misty R. Jenkins, Bree L. Hodgson, Hua-Jun Feng, Grant R. Sutherland
Publikováno v:
Human molecular genetics. 13(13)
A major challenge in understanding complex idiopathic generalized epilepsies has been the characterization of their underlying molecular genetic basis. Here, we report that genetic variation within the GABRD gene, which encodes the GABAA receptor del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31791dd9b1f3f6acee55ab7ff471418c
https://pubmed.ncbi.nlm.nih.gov/15115768
https://pubmed.ncbi.nlm.nih.gov/15115768
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction
Autor:
Samuel F. Berkovic, Sarah E. Heron, Michaella C. Richards, Bronwyn E. Grinton, A Davy, Ingrid E. Scheffer, H E Spendlove, J.C. Mulley
Publikováno v:
Journal of medical genetics. 41(3)
Mutations in the voltage gated potassium channels KCNQ2 (OMIM 602235) and KCNQ3 (OMIM 602232) are associated with an autosomal dominant idiopathic epilepsy syndrome of newborns, benign familial neonatal seizures (BFNS) (OMIM 121200). BFNS is characte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::835e76ebf94b886677046491e4991ff7
https://pubmed.ncbi.nlm.nih.gov/14985406
https://pubmed.ncbi.nlm.nih.gov/14985406
Autor:
Dorit Lev, Alison Gardner, Bruria Ben-Zeev, Michaella C. Richards, Aziz Mazarib, Scott A. Barnett, Samuel F. Berkovic, Robyn H. Wallace, I. Goikhman, Leanne M. Dibbens, Rita Singh, Gabriel Kremmidiotis, Tally Lerman-Sagie, G.R. Sutherland, Alfred L. George, Nathan Brand, Ingrid E. Scheffer, R.R. Desai, John C. Mulley
Publikováno v:
The American Journal of Human Genetics. (4):859-865
Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel beta1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c991c34fd99e745f3b6ac01932450034