Search Results - "Stephenson, J B P"

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome) by FERTLEMAN, C. R, FERRIE, C. D, POLLITZER, M, ROSSITER, M, ROULET-PEREZ, E, SCHUBERT, R, SMITH, V. V, TESTARD, H, WONG, V, STEPHENSON, J. B. P, AICARDI, J, BEDNAREK, N. A. F, EEG-OLOFSSON, O, ELMSLIE, F. V, GRIESEMER, D. A, GOUTIERES, F, KIRKPATRICK, M, MALMROS, I. N. O

“…To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition…”
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Anoxic-epileptic seizures: observational study of epileptic seizures induced by syncopes by Horrocks, I A, Nechay, A, Stephenson, J B P, Zuberi, S M

“…Aims: To describe a large series of children with anoxic-epileptic seizures (AES)—that is, epileptic seizures induced by syncopes. Methods: Retrospective…”
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Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) by Briggs, T.A., Abdel-Salam, G.M.H., Balicki, M., Baxter, P., Bertini, E., Bishop, N., Browne, B.H., Chitayat, D., Chong, W.K., Eid, M.M., Halliday, W., Hughes, I., Klusmann-Koy, A., Kurian, M., Nischal, K.K., Rice, G.I., Stephenson, J.B.P., Surtees, R., Talbot, J.F., Tehrani, N.N., Tolmie, J.L., Toomes, C., van der Knaap, M.S., Crow, Y.J.

“…Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune…”
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Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability by Eunson, L. H., Rea, R., Zuberi, S. M., Youroukos, S., Panayiotopoulos, C. P., Liguori, R., Avoni, P., McWilliam, R. C., Stephenson, J. B. P., Hanna, M. G., Kullmann, D. M., Spauschus, A.

“…Episodic ataxia type 1 (EA1) is an autosomal dominant central nervous system potassium channelopathy characterized by brief attacks of cerebellar ataxia and…”
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A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy by Zuberi, S. M., Eunson, L. H., Spauschus, A., De Silva, R., Tolmie, J., Wood, N. W., McWilliam, R. C., Stephenson, J. P. B., Kullmann, D. M., Hanna, M. G.

“…Episodic ataxia type 1 (EA1) is a rare autosomal dominant disorder characterized by brief episodes of ataxia associated with continuous interattack myokymia…”
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Cerebral palsy after maternal trauma in pregnancy by Hayes, B, Ryan, S, Stephenson, J B P, King, M D

“…Ten children (six males, four females) with spastic (n=9) and mixed spastic‐dyskinetic (n=1) cerebral palsy were born at term to mothers who earlier in the…”
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Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism by Crow, Y J, Black, D N, Ali, M, Bond, J, Jackson, A P, Lefson, M, Michaud, J, Roberts, E, Stephenson, J B P, Woods, C G, Lebon, P

“…Aicardi-Goutiéres syndrome (AGS) is an early onset, progressive encephalopathy characterised by calcification of the basal ganglia, white matter abnormalities,…”
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Gratification disorder (“infantile masturbation”): a review by Nechay, A, Ross, L M, Stephenson, J B P, O’Regan, M

“…Background: Little has been published on gratification disorder (“infantile masturbation”) in early childhood. Aims: To expand on the profile of patients…”
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Cardiac pacing for severe childhood neurally mediated syncope with reflex anoxic seizures by McLeod, K A, Wilson, N, Hewitt, J, Norrie, J, Stephenson, J B P

“…OBJECTIVE To determine whether permanent cardiac pacing could prevent syncope and seizures in children with frequent severe neurally mediated syncope, and if…”
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Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument by Crow, Y J, McMenamin, J, Haenggeli, C A, Hadley, D M, Tirupathi, S, Treacy, E P, Zuberi, S M, Browne, B H, Tolmie, J L, Stephenson, J B P

“…In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. We now…”
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Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus ( AGS1) on Chromosome 3p21 by Crow, Y.J., Jackson, A.P., Roberts, E., van Beusekom, E., Barth, P., Corry, P., Ferrie, C.D., Hamel, B.C.J., Jayatunga, R., Karbani, G., Kálmánchey, R., Kelemen, A., King, M., Kumar, R., Livingstone, J., Massey, R., McWilliam, R., Meager, A., Rittey, C., Stephenson, J.B.P., Tolmie, J.L., Verrips, A., Voit, T., van Bokhoven, H., Brunner, H.G., Woods, C.G.

“…We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset…”
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Seizures and intellectual disability associated with tuberous sclerosis complex in the west of Scotland by Shepherd, C W, Stephenson, J B

“…Of 104 individuals with tuberous sclerosis complex ascertained from the total population of the west of Scotland, 52 were born before and 52 after 1st July…”
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Hyperammonaemic encephalopathy after a subureteric injection for vesicoureteric reflux by Zuberi, S M, Stephenson, J B P, Azmy, A F, Robinson, P H, McWilliam, R C

“…A 6 year old boy developed hyperammonaemic encephalopathy following a subureteric injection for treatment of vesicoureteric reflux. The hyperammonaemia may be…”
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A novel pattern of oculocerebral malformation by Clark, Brian J, Lee, William R, Doyle, David, Arngrimsson, Reynir, Tolmie, John L, Stephenson, John B P

“…AIMS/BACKGROUND To report a novel pattern of oculocerebral malformation related to the group of diseases characterised by cobblestone lissencephaly. METHODS By…”
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A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification by TOLMIE, J. L, BROWNE, B. H, MCGETTRICK, P. M, STEPHENSON, J. B. P

“…We describe two sisters who have bilateral Coats reaction of the retina, intracranial calcification, sparse hair and dysplastic nails. The younger sibling has…”
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Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry by WILCOX, D. E, COOKE, A, COLGAN, J, BOYD, E, AITKEN, D. A, SINCLAIR, L, GLASGOW, L, STEPHENSON, J. B. P, FERGUSON-SMITH, M. A

“…We report two male cousins with Duchenne muscular dystrophy (DMD) in whom cytogenetic studies have shown a small interstitial deletion at Xp21. The lesion is…”
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A bifunctional protein with deficient enzymic activity: Identification of a new peroxisomal disorder using novel methods to measure the peroxisomal β‐oxidation enzyme activities by Wanders, R. J. A., Roermund, C. W. T., Schelen, A., Schutgens, R. B. H., Tager, J. M., Stephenson, J. B. P., Clayton, P. T.

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Ocular compression in reflex anoxic seizures by Stephenson, J. B. P.

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Bile acid analyses in “pseudo‐Zellweger” syndrome; clues to the defect in peroxisomal β‐oxidation by Clayton, P. T., Lake, B. D., Hjelm, M., Stephenson, J. B. P., Besley, G. T. N., Wanders, R. J. A., Schram, A. W., Tager, J. M., Schutgens, R. B. H., Lawson, A. M.

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Cataplexy in the Prader–Willi syndrome by Tobias, E S, Tolmie, J L, Stephenson, J B P

“…Detailed questioning of the mother of an 18 year old woman who had PWS elicited a history of recurrent attacks, apparently induced by laughter, with sudden…”
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