{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T09:21:44Z","timestamp":1790155304546,"version":"4.0.1"},"reference-count":19,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,6]]},"abstract":"<jats:p>OBJECTIVES--To establish the frequency of fits and mental retardation in an unbiased group of tuberous sclerosis patients. METHODS--Known tuberous sclerosis families with more than one affected person were ascertained for a genetic linkage study. A number of members were born after genetic counselling had been given after identification of the proband. These subjects were then carefully examined clinically and in many cases with cranial computerised tomography, renal ultrasound, and skeletal survey but not echocardiography. They provide an unbiased group of tuberous sclerosis patients and allow affected patients with normal intellect to be diagnosed. PATIENTS--Thirty-seven tuberous sclerosis families were ascertained and 26 patients born after the family proband were identified. RESULTS--Sixteen of these 26 patients suffered fits (62%) and 10 patients were mentally retarded (38%). CONCLUSIONS--A lower incidence of fits and mental retardation has been found in an unbiased sample of tuberous sclerosis patients. The lifetime risk for fits might be higher had we been able to follow the patients for longer. However, we believe these are more appropriate figures to use in genetic counselling for this disease.<\/jats:p>","DOI":"10.1136\/jmg.28.6.395","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"395-397","source":"Crossref","is-referenced-by-count":105,"title":["On the incidence of fits and mental retardation in tuberous sclerosis."],"prefix":"10.1136","volume":"28","author":[{"given":"D W","family":"Webb","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A E","family":"Fryer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J P","family":"Osborne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1991,6,1]]},"reference":[{"key":"ref_1","article-title":"This family study","volume":"62","year":"1990","unstructured":"This family study 1990 62"},{"key":"ref_2","article-title":"We would like to thank the physicians who contributed patients for the gene linkage study. We would also like to thank the Tuberous Sclerosis Association","volume-title":"support and Helen Hansen for her help with typing the manuscript","unstructured":"We would like to thank the physicians who contributed patients for the gene linkage study. We would also like to thank the Tuberous Sclerosis Association, Glaxo Laboratories Ltd, Avon Rubber plc, Intercity, and Cow and Gate Ltd for their financial support and Helen Hansen for her help with typing the manuscript."},{"key":"ref_3","first-page":"1","article-title":"Erforsch Behandl jugendl Schwachsinns 1908; 2","author":"der tuberosen sklerose. Z, Vogt H.Zur Diagnostik","unstructured":"Vogt H. Zur Diagnostik der tuberosen sklerose. Z Erforsch Behandl jugendl Schwachsinns 1908;2: 1-12."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1007\/BF02982409","article-title":"The genetics of epiloia","volume":"31","author":"Gunther, M.; Penrose, L.S.","year":"1935","unstructured":"Gunther M, Penrose LS. The genetics of epiloia. J Genet 1935;31:413-30.","journal-title":"J Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1001\/archneurpsyc.1943.02290210011001","article-title":"Tuberous sclerosis","volume":"50","author":"Ross, A.T.; Dickerson, W.W.","year":"1943","unstructured":"Ross AT, Dickerson WW. Tuberous sclerosis. Arch Neurol Psychiatry 1943;50:233-57.","journal-title":"Arch Neurol Psychiatry"},{"key":"ref_6","first-page":"63","article-title":"Tuberous sclerosis: a clinical and genetical investigation","volume":"12","author":"Zaremba, J.","year":"1968","unstructured":"Zaremba J. Tuberous sclerosis: a clinical and genetical investigation. J Ment Defic Res 1968;12:63-80.","journal-title":"J Ment Defic Res"},{"key":"ref_7","first-page":"134","article-title":"Frequency of epiloia in Northern Ireland. Br j Prev Soc Med","volume":"1","author":"Stevenson, A.C.; Fischer, O.D.","year":"1956","unstructured":"Stevenson AC, Fischer OD. Frequency of epiloia in Northern Ireland. Br j Prev Soc Med 1956;1O: 134-5."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1136\/jmg.5.4.273","article-title":"Diagnostic and genetical aspects of tuberous sclerosis","volume":"5","author":"Nevin, N.C.; Pearce, W.G.","year":"1968","unstructured":"Nevin NC, Pearce WG. Diagnostic and genetical aspects of tuberous sclerosis. J Med Genet 1968;5:273-80.","journal-title":"J Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1136\/jmg.21.4.272","article-title":"Tuberous sclerosis: a new estimate of prevalence within the Oxford region","volume":"4","author":"Hunt, A.; Lindenbaum, R.H.","year":"1984","unstructured":"Hunt A, Lindenbaum RH. Tuberous sclerosis: a new estimate of prevalence within the Oxford region. J Med Genet 1984;4: 272-7.","journal-title":"J Med Genet"},{"key":"ref_10","first-page":"600","article-title":"Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through","volume":"35","year":"1982","unstructured":"Wiederholt WC, Gomez MR, Kurland LT. Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology 1985;35:600-3.","journal-title":"Neurology"},{"key":"ref_11","first-page":"349","article-title":"Tuberous sclerosis: prevalence in the Grampian Region of Scotland","volume":"33","author":"Umapathy, D.; Johnston, A.W.","year":"1989","unstructured":"Umapathy D, Johnston AW. Tuberous sclerosis: prevalence in the Grampian Region of Scotland. J Ment Defic Res 1989;33: 349-55.","journal-title":"J Ment Defic Res"},{"key":"ref_12","first-page":"659","article-title":"Evidence that the gene for tuberous sclerosis is on chromosome 9","volume":"i:","author":"Fryer, A.E.; Chalmers, A.; Connor, J.M.","year":"1987","unstructured":"Fryer AE, Chalmers A, Connor JM, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987;i: 659-61.","journal-title":"Lancet"},{"key":"ref_13","author":"sclerosis, Gomez MRTuberous","year":"1979","unstructured":"Gomez MR, ed. Tuberous sclerosis. New York: Raven Press, 1979."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1136\/adc.63.12.1423","article-title":"Diagnosis of tuberous sclerosis","volume":"63","author":"Osborne, J.P.","year":"1988","unstructured":"Osborne JP. Diagnosis of tuberous sclerosis. Arch Dis Child 1988;63:1423-5.","journal-title":"Arch Dis Child"},{"key":"ref_15","first-page":"1010","article-title":"Linkage heterogeneity in tuberous sclerosis. Tuberous sclerosis collaborative group. HGM10","volume":"51","author":"Amos, J.; Bech-Hansen, T.; Burley, M.M.","year":"1989","unstructured":"Amos J, Bech-Hansen T, Burley MM, et al. Linkage heterogeneity in tuberous sclerosis. Tuberous sclerosis collaborative group. HGM10. Cytogenet Cell Genet 1989;51:1010.","journal-title":"Cytogenet Cell Genet"},{"issue":"55","key":"ref_16","first-page":"311","article-title":"Tuberous sclerosis and allied conditions","volume":"1932","author":"Critchley, M.; Earl, C.J.C.","unstructured":"Critchley M, Earl CJC. Tuberous sclerosis and allied conditions. Brain 1932;55:311-44.","journal-title":"Brain"},{"issue":"32","key":"ref_17","first-page":"591","article-title":"Tuberous sclerosis: a genetic study","volume":"1969","author":"Bundey, S.; Evans, K.","unstructured":"Bundey S, Evans K. Tuberous sclerosis: a genetic study. J Neurol Neurosurg Psychiatry 1969;32:591-603.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1136\/jnnp.39.7.666","article-title":"The tuberous sclerosis syndromeclinical and EEG studies in 100 children","volume":"39","author":"Pampiglione, G.; Moynahan, E.J.","year":"1976","unstructured":"Pampiglione G, Moynahan EJ. The tuberous sclerosis syndromeclinical and EEG studies in 100 children. J Neurol Neurosurg Psychiatry 1976;39:666-73.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_19","first-page":"912","article-title":"Tuberous sclerosis complex in children","volume":"135","author":"Monaghan, H.P.; Krafchik, B.R.; MacGregor, D.L.; Fitz, C.R.","year":"1981","unstructured":"Monaghan HP, Krafchik BR, MacGregor DL, Fitz CR. Tuberous sclerosis complex in children. Am3J Dis Child 1981;135:912-7.","journal-title":"Am3J Dis Child"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.6.395","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:07:02Z","timestamp":1760771222000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.6.395"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,6]]},"references-count":19,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1991,6,1]]},"published-print":{"date-parts":[[1991,6]]}},"alternative-id":["10.1136\/jmg.28.6.395"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.6.395","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,6]]}}}