Výsledky vyhledávání - "Sarah E Heron"

Akademický článek

Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.

Publikováno v: PLoS ONE, Vol 10, Iss 3, p e0118946 (2015)

Nucleotide alterations in the gene encoding proline-rich transmembrane protein 2 (PRRT2) have been identified in most patients with benign partial epilepsies in infancy (BPEI)/benign familial infantile epilepsy (BFIE). However, not all patients harbo

Externí odkaz: https://doaj.org/article/f2bfadebdfbf47f1bde9c651428331f0

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Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants

Publikováno v: Human Mutation. 42:1030-1041

PCDH19 is a nonclustered protocadherin molecule involved in axon bundling, synapse function, and transcriptional coregulation. Pathogenic variants in PCDH19 cause infantile-onset epilepsy known as PCDH19-clustering epilepsy or PCDH19-CE. Recent advan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98642cac02b62c426ddada968741bda8
https://doi.org/10.1002/humu.24237

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Akademický článek

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

Autor: John C. Mulley, Xenia Iona, Bree Hodgson, Sarah E. Heron, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens

Publikováno v: Neurology Research International, Vol 2011 (2011)

Sixty cases of febrile seizures from a Chinese cohort had previously been reported with a strong association between variants in the seizure-related (SEZ) 6 gene and febrile seizures. They found a striking lack of genetic variation in their controls.

Externí odkaz: https://doaj.org/article/3e75530423454e98be0884af7a0bfb10

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Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

Autor: Fiona Haslam McKenzie, Maria Arvio, Bree Hodgson, Jozef Gecz, Irma Järvelä, Marie Shaw, Sarah E. Heron, Raman Kumar, Renee Carroll, Alison Gardner

Publikováno v: European journal of medical genetics. 63(10)

The major and most well-studied genetic cause of Fragile-X syndrome (FXS) is expansion of a CGG repeat in the 5'-UTR of the FMR1 gene. Routine testing for this expansion is performed globally. Overall, there is a paucity of intragenic variants explai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dba00d5bb00c23510f92b2eae678513
https://pubmed.ncbi.nlm.nih.gov/32688058

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Mutations in the mammalian target of rapamycin pathway regulatorsNPRL2andNPRL3cause focal epilepsy

Publikováno v: Annals of Neurology. 79:120-131

Objective Focal epilepsies are the most common form observed and have not generally been considered to be genetic in origin. Recently, we identified mutations in DEPDC5 as a cause of familial focal epilepsy. In this study, we investigated whether mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b208a8841e173f6b0b61420e794caba7
https://doi.org/10.1002/ana.24547

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Mutations inKCNT1cause a spectrum of focal epilepsies

Publikováno v: ResearcherID
Møller, R S, Heron, S E, Larsen, L H G, Lim, C X, Ricos, M G, Bayly, M A, van Kempen, M J A, Klinkenberg, S, Andrews, I, Kelley, K, Ronen, G M, Callen, D, McMahon, J M, Yendle, S C, Carvill, G L, Mefford, H C, Nabbout, R, Poduri, A, Striano, P, Baglietto, M G, Zara, F, Smith, N J, Pridmore, C, Gardella, E, Nikanorova, M, Dahl, H A, Gellert, P, Scheffer, I E, Gunning, B, Kragh-Olsen, B & Dibbens, L M 2015, ' Mutations in KCNT1 cause a spectrum of focal epilepsies ', Epilepsia, vol. 56, no. 9, pp. e114-e120 . https://doi.org/10.1111/epi.13071
Epilepsia, 56(9), E114-E120. Wiley
Epilepsia, 56(9), e114. Wiley-Blackwell

Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To furth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b433f9b191c0cb22d6b4bd8b27b48419
https://doi.org/10.1111/epi.13071

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Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations

Autor: Federica Provini, Samuel F. Berkovic, Francesca Bisulli, Laura Licchetta, Ingrid E. Scheffer, Paolo Tinuper, Leanne M. Dibbens, Michael G. Ricos, Sarah E. Heron, Bree L. Hodgson, Douglas E. Crompton, Simone Mandelstam, Brigid M. Regan, Lata Vadlamudi, Alan Connelly, Jozef Gecz

Publikováno v: Annals of Neurology. 75:782-787

We recently identified DEPDC5 as the gene for familial focal epilepsy with variable foci and found mutations in >10% of small families with nonlesional focal epilepsy. Here we show that DEPDC5 mutations are associated with both lesional and nonlesion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8a32a3dc65e3bbca68fb1c8a4cac9aee
https://doi.org/10.1002/ana.24126

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KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine

Autor: Donald P. Younkin, Christopher A. Reid, Carol J. Milligan, Dennis J. Dlugos, Chantel Trager, Melody Li, Steven Petrou, Sarah E. Heron, Anu Venkat, Umesh Nair, Samuel F. Berkovic, Ingrid E. Scheffer, Slavé Petrovski, David Goldstein, Elena V. Gazina, Leanne M. Dibbens

Publikováno v: Annals of Neurology. 75:581-590

Objective Mutations in KCNT1 have been implicated in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and epilepsy of infancy with migrating focal seizures (EIMFS). More recently, a whole exome sequencing study of epileptic encephalopathie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d74c9ff6bd7ec82348498d0e80683978
https://doi.org/10.1002/ana.24128

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