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Convulsive disorder, familial, with prenatal or early onset

MedGen UID:
387859
•Concept ID:
C1857575
•
Disease or Syndrome
Synonym: Convulsive Disorder, Familial, with Prenatal or Early Onset
 
Monarch Initiative: MONDO:0009013
OMIM®: 217200

Clinical features

From HPO
Myoclonus
MedGen UID:
10234
•Concept ID:
C0027066
•
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
See: Feature record | Search on this feature
Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Updates in Late-Onset Sepsis: Risk Assessment, Therapy, and Outcomes.
Coggins SA, Glaser K
Neoreviews 2022 Nov 1;23(11):738-755. doi: 10.1542/neo.23-10-e738. PMID: 36316254Free PMC Article
Progress in Diagnosis and Treatment of Neonatal Sepsis: A Review Article.
Yadav P, Yadav SK
JNMA J Nepal Med Assoc 2022 Mar 11;60(247):318-324. doi: 10.31729/jnma.7324. PMID: 35633256Free PMC Article
Neonatal Seizures: Diagnosis, Etiologies, and Management.
Ziobro J, Shellhaas RA
Semin Neurol 2020 Apr;40(2):246-256. Epub 2020 Mar 6 doi: 10.1055/s-0040-1702943. PMID: 32143234

Recent clinical studies

Etiology

Increasing Incidence of Early-Onset Colorectal Cancer.
Sinicrope FA
N Engl J Med 2022 Apr 21;386(16):1547-1558. doi: 10.1056/NEJMra2200869. PMID: 35443109
Association of Age of Onset of Hypertension With Cardiovascular Diseases and Mortality.
Wang C, Yuan Y, Zheng M, Pan A, Wang M, Zhao M, Li Y, Yao S, Chen S, Wu S, Xue H
J Am Coll Cardiol 2020 Jun 16;75(23):2921-2930. doi: 10.1016/j.jacc.2020.04.038. PMID: 32527401
Early-onset Alzheimer Disease and Its Variants.
Mendez MF
Continuum (Minneap Minn) 2019 Feb;25(1):34-51. doi: 10.1212/CON.0000000000000687. PMID: 30707186Free PMC Article
Specific phobias.
Eaton WW, Bienvenu OJ, Miloyan B
Lancet Psychiatry 2018 Aug;5(8):678-686. doi: 10.1016/S2215-0366(18)30169-X. PMID: 30060873Free PMC Article
Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication.
Kessler RC, Berglund P, Demler O, Jin R, Merikangas KR, Walters EE
Arch Gen Psychiatry 2005 Jun;62(6):593-602. doi: 10.1001/archpsyc.62.6.593. PMID: 15939837

Diagnosis

Increasing Incidence of Early-Onset Colorectal Cancer.
Sinicrope FA
N Engl J Med 2022 Apr 21;386(16):1547-1558. doi: 10.1056/NEJMra2200869. PMID: 35443109
Early-onset Alzheimer Disease and Its Variants.
Mendez MF
Continuum (Minneap Minn) 2019 Feb;25(1):34-51. doi: 10.1212/CON.0000000000000687. PMID: 30707186Free PMC Article
Early-Onset Inflammatory Bowel Disease.
Kelsen JR, Russo P, Sullivan KE
Immunol Allergy Clin North Am 2019 Feb;39(1):63-79. doi: 10.1016/j.iac.2018.08.008. PMID: 30466773Free PMC Article
Early-Onset Alzheimer Disease.
Mendez MF
Neurol Clin 2017 May;35(2):263-281. doi: 10.1016/j.ncl.2017.01.005. PMID: 28410659Free PMC Article
Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication.
Kessler RC, Berglund P, Demler O, Jin R, Merikangas KR, Walters EE
Arch Gen Psychiatry 2005 Jun;62(6):593-602. doi: 10.1001/archpsyc.62.6.593. PMID: 15939837

Therapy

Association of Age of Onset of Hypertension With Cardiovascular Diseases and Mortality.
Wang C, Yuan Y, Zheng M, Pan A, Wang M, Zhao M, Li Y, Yao S, Chen S, Wu S, Xue H
J Am Coll Cardiol 2020 Jun 16;75(23):2921-2930. doi: 10.1016/j.jacc.2020.04.038. PMID: 32527401
Early-onset diabetes: an epidemic in China.
Pan J, Jia W
Front Med 2018 Dec;12(6):624-633. Epub 2018 Nov 5 doi: 10.1007/s11684-018-0669-1. PMID: 30393830
Update on pediatric-onset multiple sclerosis.
Ruet A
Rev Neurol (Paris) 2018 Jun;174(6):398-407. Epub 2018 May 19 doi: 10.1016/j.neurol.2018.04.003. PMID: 29784250
Early-onset schizophrenia.
Remschmidt H, Theisen F
Neuropsychobiology 2012;66(1):63-9. Epub 2012 Jul 13 doi: 10.1159/000338548. PMID: 22797279
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Prognosis

Increasing Incidence of Early-Onset Colorectal Cancer.
Sinicrope FA
N Engl J Med 2022 Apr 21;386(16):1547-1558. doi: 10.1056/NEJMra2200869. PMID: 35443109
The rising tide of early-onset colorectal cancer: a comprehensive review of epidemiology, clinical features, biology, risk factors, prevention, and early detection.
Patel SG, Karlitz JJ, Yen T, Lieu CH, Boland CR
Lancet Gastroenterol Hepatol 2022 Mar;7(3):262-274. Epub 2022 Jan 26 doi: 10.1016/S2468-1253(21)00426-X. PMID: 35090605
Characteristics of Early-Onset vs Late-Onset Colorectal Cancer: A Review.
REACCT Collaborative, Zaborowski AM, Abdile A, Adamina M, Aigner F, d'Allens L, Allmer C, Álvarez A, Anula R, Andric M, Atallah S, Bach S, Bala M, Barussaud M, Bausys A, Bebington B, Beggs A, Bellolio F, Bennett MR, Berdinskikh A, Bevan V, Biondo S, Bislenghi G, Bludau M, Boutall A, Brouwer N, Brown C, Bruns C, Buchanan DD, Buchwald P, Burger JWA, Burlov N, Campanelli M, Capdepont M, Carvello M, Chew HH, Christoforidis D, Clark D, Climent M, Cologne KG, Contreras T, Croner R, Daniels IR, Dapri G, Davies J, Delrio P, Denost Q, Deutsch M, Dias A, D'Hoore A, Drozdov E, Duek D, Dunlop M, Dziki A, Edmundson A, Efetov S, El-Hussuna A, Elliot B, Emile S, Espin E, Evans M, Faes S, Faiz O, Fleming F, Foppa C, Fowler G, Frasson M, Figueiredo N, Forgan T, Frizelle F, Gadaev S, Gellona J, Glyn T, Gong J, Goran B, Greenwood E, Guren MG, Guillon S, Gutlic I, Hahnloser D, Hampel H, Hanly A, Hasegawa H, Iversen LH, Hill A, Hill J, Hoch J, Hoffmeister M, Hompes R, Hurtado L, Iaquinandi F, Imbrasaite U, Islam R, Jafari MD, Kanemitsu Y, Karachun A, Karimuddin AA, Keller DS, Kelly J, Kennelly R, Khrykov G, Kocian P, Koh C, Kok N, Knight KA, Knol J, Kontovounisios C, Korner H, Krivokapic Z, Kronberger I, Kroon HM, Kryzauskas M, Kural S, Kusters M, Lakkis Z, Lankov T, Larson D, Lázár G, Lee KY, Lee SH, Lefèvre JH, Lepisto A, Lieu C, Loi L, Lynch C, Maillou-Martinaud H, Maroli A, Martin S, Martling A, Matzel KE, Mayol J, McDermott F, Meurette G, Millan M, Mitteregger M, Moiseenko A, Monson JRT, Morarasu S, Moritani K, Möslein G, Munini M, Nahas C, Nahas S, Negoi I, Novikova A, Ocares M, Okabayashi K, Olkina A, Oñate-Ocaña L, Otero J, Ozen C, Pace U, São Julião GP, Panaiotti L, Panis Y, Papamichael D, Park J, Patel S, Patrón Uriburu JC, Pera M, Perez RO, Petrov A, Pfeffer F, Phang PT, Poskus T, Pringle H, Proud D, Raguz I, Rama N, Rasheed S, Raval MJ, Rega D, Reissfelder C, Reyes Meneses JC, Ris F, Riss S, Rodriguez-Zentner H, Roxburgh CS, Saklani A, Salido AJ, Sammour T, Saraste D, Schneider M, Seishima R, Sekulic A, Seppala T, Sheahan K, Shine R, Shlomina A, Sica GS, Singnomklao T, Siragusa L, Smart N, Solis A, Spinelli A, Staiger RD, Stamos MJ, Steele S, Sunderland M, Tan KK, Tanis PJ, Tekkis P, Teklay B, Tengku S, Jiménez-Toscano M, Tsarkov P, Turina M, Ulrich A, Vailati BB, van Harten M, Verhoef C, Warrier S, Wexner S, de Wilt H, Weinberg BA, Wells C, Wolthuis A, Xynos E, You N, Zakharenko A, Zeballos J, Winter DC
JAMA Surg 2021 Sep 1;156(9):865-874. doi: 10.1001/jamasurg.2021.2380. PMID: 34190968
Association of Age of Onset of Hypertension With Cardiovascular Diseases and Mortality.
Wang C, Yuan Y, Zheng M, Pan A, Wang M, Zhao M, Li Y, Yao S, Chen S, Wu S, Xue H
J Am Coll Cardiol 2020 Jun 16;75(23):2921-2930. doi: 10.1016/j.jacc.2020.04.038. PMID: 32527401
Early-onset colorectal cancer in young individuals.
Mauri G, Sartore-Bianchi A, Russo AG, Marsoni S, Bardelli A, Siena S
Mol Oncol 2019 Feb;13(2):109-131. Epub 2018 Dec 22 doi: 10.1002/1878-0261.12417. PMID: 30520562Free PMC Article

Clinical prediction guides

Specific phobias.
Eaton WW, Bienvenu OJ, Miloyan B
Lancet Psychiatry 2018 Aug;5(8):678-686. doi: 10.1016/S2215-0366(18)30169-X. PMID: 30060873Free PMC Article
Asthma in childhood.
de Benedictis FM, Attanasi M
Eur Respir Rev 2016 Mar;25(139):41-7. doi: 10.1183/16000617.0082-2015. PMID: 26929420Free PMC Article
Epidemiology, demographic characteristics and prognostic predictors of ulcerative colitis.
da Silva BC, Lyra AC, Rocha R, Santana GO
World J Gastroenterol 2014 Jul 28;20(28):9458-67. doi: 10.3748/wjg.v20.i28.9458. PMID: 25071340Free PMC Article
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication.
Kessler RC, Berglund P, Demler O, Jin R, Merikangas KR, Walters EE
Arch Gen Psychiatry 2005 Jun;62(6):593-602. doi: 10.1001/archpsyc.62.6.593. PMID: 15939837

Recent systematic reviews

Nonrestorative Caries Treatment: A Systematic Review Update.
Cabalén MB, Molina GF, Bono A, Burrow MF
Int Dent J 2022 Dec;72(6):746-764. Epub 2022 Jul 22 doi: 10.1016/j.identj.2022.06.022. PMID: 35879115Free PMC Article
Dietary factors and onset of natural menopause: A systematic review and meta-analysis.
Grisotto G, Farago JS, Taneri PE, Wehrli F, Roa-Díaz ZM, Minder B, Glisic M, Gonzalez-Jaramillo V, Voortman T, Marques-Vidal P, Franco OH, Muka T
Maturitas 2022 May;159:15-32. Epub 2021 Dec 22 doi: 10.1016/j.maturitas.2021.12.008. PMID: 35337609
A Systematic Review of Monogenic Inflammatory Bowel Disease.
Nambu R, Warner N, Mulder DJ, Kotlarz D, McGovern DPB, Cho J, Klein C, Snapper SB, Griffiths AM, Iwama I, Muise AM
Clin Gastroenterol Hepatol 2022 Apr;20(4):e653-e663. Epub 2021 Mar 18 doi: 10.1016/j.cgh.2021.03.021. PMID: 33746097Free PMC Article
Associations Between Screen Use and Child Language Skills: A Systematic Review and Meta-analysis.
Madigan S, McArthur BA, Anhorn C, Eirich R, Christakis DA
JAMA Pediatr 2020 Jul 1;174(7):665-675. doi: 10.1001/jamapediatrics.2020.0327. PMID: 32202633Free PMC Article
Meta-analysis: Exposure to Early Life Stress and Risk for Depression in Childhood and Adolescence.
LeMoult J, Humphreys KL, Tracy A, Hoffmeister JA, Ip E, Gotlib IH
J Am Acad Child Adolesc Psychiatry 2020 Jul;59(7):842-855. Epub 2019 Oct 30 doi: 10.1016/j.jaac.2019.10.011. PMID: 31676392

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