Search Results - "Phillips, Hilary A"

Genetic variation of CACNA1H in idiopathic generalized epilepsy by Heron, Sarah E., Phillips, Hilary A., Mulley, John C., Mazarib, Aziz, Neufeld, Miriam Y., Berkovic, Samuel F., Scheffer, Ingrid E.

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The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene by Bhalla, Kavita, Phillips, Hilary A, Crawford, Joanna, McKenzie, Olivia L D, Mulley, John C, Eyre, Helen, Gardner, Alison E, Kremmidiotis, Gabriel, Callen, David F

“…The 16p13.3 breakpoints of two de novo translocations of chromosome 16, t(1;16) and t(14;16), were shown by initial mapping studies to have physically adjacent…”
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Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy by McLellan, Ailsa, Phillips, Hilary A., Rittey, Christopher, Kirkpatrick, Martin, Mulley, John C., Goudie, David, Stephenson, John B. P., Tolmie, John, Scheffer, Ingrid E., Berkovic, Samuel F., Zuberi, Sameer M.

“…Purpose: Mutations in genes coding for the α4 and β2 subunits of the neuronal nicotinic acetylcholine receptor receptor (CHRN) are known to cause autosomal…”
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Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12 by Berkovic, Samuel F., Serratosa, Jose M., Phillips, Hilary A., Xiong, Lan, Andermann, Eva, Díaz‐Otero, Fernando, Gómez‐Garre, Pilar, Martín, Mercedes, Fernández‐Bullido, Yolanda, Andermann, Frederick, Lopes‐Cendes, Iscia, Dubeau, Francois, Desbiens, Richard, Scheffer, Ingrid E., Wallace, Robyn H., Mulley, John C., Pandolfo, Massimo

“…Background: Familial partial epilepsy with variable foci (FPEVF) is an autosomal dominant syndrome characterized by partial seizures originating from different…”
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Sodium-channel defects in benign familial neonatal-infantile seizures by Heron, Sarah E, Crossland, Kathryn M, Andermann, Eva, Phillips, Hilary A, Hall, Allison J, Bleasel, Andrew, Shevell, Michael, Mercho, Suha, Seni, Marie-Helene, Guiot, Marie-Christine, Mulley, John C, Berkovic, Samuel F, Scheffer, Ingrid E

“…Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders…”
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CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy by Phillips, Hilary A., Favre, Isabelle, Kirkpatrick, Martin, Zuberi, Sameer M., Goudie, David, Heron, Sarah E., Scheffer, Ingrid E., Sutherland, Grant R., Berkovic, Samuel F., Bertrand, Daniel, Mulley, John C.

“…Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, idiopathic partial epilepsy characterized by clusters of motor seizures occurring…”
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Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore by Hoda, Jean-Charles, Gu, Wenli, Friedli, Marc, Phillips, Hilary A, Bertrand, Sonia, Antonarakis, Stylianos E, Goudie, David, Roberts, Richard, Scheffer, Ingrid E, Marini, Carla, Patel, Jayesh, Berkovic, Samuel F, Mulley, John C, Steinlein, Ortrud K, Bertrand, Daniel

“…Certain mutations in specific parts of the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4, CHRNB2, and probably CHRNA2, can cause…”
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Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability by Derry, Christopher P., Heron, Sarah E., Phillips, Fiona, Howell, Stephen, MacMahon, Jacinta, Phillips, Hilary A., Duncan, John S., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E.

“…Summary Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a relatively benign epilepsy syndrome with few comorbidities. Here we describe two…”
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A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy by Steinlein, Ortrud K, Mulley, John C, Propping, Peter, Wallace, Robyn H, Phillips, Hilary A, Sutherland, Grant R, Scheffer, Ingrid E, Berkovic, Samuel F

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Febrile seizures and generalized epilepsy associated with a mutation in the Na + -channel ß1 subunit gene SCN1B by Mulley, John C, Wallace, Robyn H, Wang, Dao W, Singh, Rita, Scheffer, Ingrid E, George, Alfred L, Phillips, Hilary A, Saar, Kathrin, Reis, Andre, Johnson, Eric W, Sutherland, Grant R, Berkovic, Samuel F

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Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B by WALLACE, R. H, WANG, D. W, BERKOVIC, S. F, MULLEY, J. C, SINGH, R, SCHEFFER, I. E, GEORGE, A. L, PHILLIPS, H. A, SAAR, K, REIS, A, JOHNSON, E. W, SUTHERLAND, G. R

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Incidence and origin of null alleles in the (AC)n microsatellite markers by CALLEN, D. F, THOMPSON, A. D, YANG SHEN, PHILLIPS, H. A, RICHARDS, R. I, MULLEY, J. C, SUTHERLAND, G. R

“…Twenty-three (AC)n repeat markers from chromosome 16 were typed in the parents of the 40 CEPH (Centre d'Etude du Polymorphisme Humain) families. Where parents…”
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Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2 by Scheffer, I E, Phillips, H A, O'Brien, C E, Saling, M M, Wrennall, J A, Wallace, R H, Mulley, J C, Berkovic, S F

“…Familial partial epilepsy with variable foci (FPEVF) joins the recently recognized group of inherited partial epilepsies. We describe an Australian family with…”
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Sodium-channel defects in benign femilial neonatal-infantile seizures by Heron, Sarah E, Crossland, Kathryn M, Andermann, Eva, Phillips, Hilary A

“…Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders…”
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Localization of craniosynostosis Adelaide type to 4p16 by Hollway, G E, Phillips, H A, Adès, L C, Haan, E A, Mulley, J C

“…Craniosynostosis Adelaide type is a rare autosomal dominant syndrome associated with digital abnormalities. Linkage mapping was carried out excluding allelism…”
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SSCP variants within the α4 subunit of the neuronal nicotinic acetylcholine receptor gene by Phillips, Hilary A., Mulley, John C.

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Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association by Mitchison, H M, Taschner, P E, O'Rawe, A M, de Vos, N, Phillips, H A, Thompson, A D, Kozman, H M, Haines, J L, Schlumpf, K, D'Arigo, K

“…CLN3, the gene for juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten disease, has been localized by genetic linkage analysis to chromosome 16p…”
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Localization of the human gene for mu-crystallin to chromosome 16p by Chen, H, Phillips, H A, Callen, D F, Kim, R Y, Wistow, G J, Antonarakis, S E

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