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About 13,883 results

ALLMedicine™ Mental Retardation Center

Research & Reviews  6,707 results

Channelopathies in fragile X syndrome.
https://doi.org/10.1038/s41583-021-00445-9 10.1146/annurev.genom.8.080706.092249 10.1002/ajmg.a.38504 10.1016/j.neuron.2015.06.017 10.1038/ng0893-335 10.1016/j.brainresbull.2014.01.002 10.1113/JP270675 10.1016/j.neuron.2015.07.033 10.1038/s41398-019-0650-z 10.1111/j.1469-8749.2002.tb00277.x 10.1053/seiz.2000.0492 10.1002/(SICI)1096-8628(19990402)83:4<268::AID-AJMG7>3.0.CO;2-K 10.1002/(SICI)1096-8628(19960809)64:2<388::AID-AJMG31>3.0.CO;2-9 10.1093/sleep/33.5.679 10.1155/2019/5202808 10.1016/S0306-4522(01)00036-7 10.1111/j.1528-1157.2000.tb01499.x 10.1016/j.neuropharm.2005.06.004 10.1016/j.neuron.2012.01.034 10.3389/fncel.2013.00046 10.1016/j.celrep.2015.03.065 10.1038/nm.3127 10.1016/j.brainres.2013.02.038 10.1523/JNEUROSCI.0651-17.2017 10.1038/sj.mp.4001432 10.1016/j.neuroscience.2013.04.058 10.1038/npp.2014.291 10.1016/j.bbr.2012.01.031 10.1016/j.ijdevneu.2014.07.002 10.1016/j.ijdevneu.2014.05.003 10.1023/A:1022606200636 10.1152/jn.90752.2008 10.1523/JNEUROSCI.3157-11.2011 10.1038/nn.3033 10.1038/nn.3415 10.1038/s41467-019-12736-y 10.1038/s41593-018-0231-0 10.1523/JNEUROSCI.2310-16.2017 10.1002/cne.24290 10.1371/journal.pone.0117266 10.1523/JNEUROSCI.1777-05.2005 10.1113/JP271031 10.1113/JP271190 10.1152/jn.00413.2016 10.1152/jn.00597.2013 10.1002/jnr.23632 10.1523/JNEUROSCI.1714-10.2010 10.1523/JNEUROSCI.2764-12.2013 10.1073/pnas.1002262107 10.1523/JNEUROSCI.1593-18.2018 10.1016/j.celrep.2016.08.046 10.1523/JNEUROSCI.0839-18.2019 10.1113/JP274258 10.1016/j.neuron.2007.04.028 10.1016/j.celrep.2012.02.002 10.1038/nn.3864 10.1523/ENEURO.0114-15.2015 10.1038/s41467-019-11891-6 10.1038/ncomms4628 10.1016/j.nbd.2020.104779 10.1016/j.neuron.2012.12.018 10.1523/JNEUROSCI.2021-11.2011 10.1016/j.expneurol.2017.08.008 10.1038/s41380-018-0240-0 10.1093/cercor/bhn159 10.1016/S0092-8674(01)00566-9 10.1523/JNEUROSCI.1125-10.2010 10.1016/j.neuroscience.2010.02.046 10.1016/S0166-2236(00)01892-0 10.1038/nn.2563 10.1523/JNEUROSCI.2162-12.2012 10.1016/bs.irn.2016.04.001 10.1038/nrn1992 10.1073/pnas.1423094112 10.1186/s13023-014-0124-6 10.1085/jgp.202012634 10.1016/j.neuron.2013.02.001 10.1085/jgp.201912502 10.1523/JNEUROSCI.0317-15.2015 10.1038/s41467-021-21820-1 10.1038/npp.2017.149 10.1038/nrn2148 10.1523/ENEURO.0217-19.2019 10.1101/cshperspect.a003947 10.1016/j.stemcr.2018.11.003 10.3389/fnmol.2018.00342 10.1523/JNEUROSCI.1443-17.2019 10.1038/s41467-020-16250-4 10.1073/pnas.1616206113 10.1016/j.neuron.2004.07.014 10.1016/j.cell.2011.06.013 10.1523/JNEUROSCI.6661-10.2011 10.1016/j.neuron.2011.09.033 10.1523/JNEUROSCI.3256-13.2013 10.1016/S0306-4522(03)00406-8 10.1523/JNEUROSCI.15-10-06879.1995 10.1113/jphysiol.2013.270058 10.1523/JNEUROSCI.1670-19.2020 10.1073/pnas.122205699 10.1006/mcne.2001.1085 10.1523/JNEUROSCI.2638-05.2005 10.1523/JNEUROSCI.1496-08.2008 10.1101/gad.232470.113 10.1016/j.celrep.2015.05.013 10.1089/cap.2006.16.525 10.1074/jbc.M109.042663 10.1016/j.neuron.2010.01.005 10.1002/jnr.22546 10.1093/cercor/bht237 10.1016/j.neubiorev.2016.06.033 10.1002/hipo.20890 10.3389/fnmol.2018.00495 10.1177/2398212819858249 10.1016/j.ejpn.2019.12.022 10.1016/j.nbd.2005.07.017 10.1016/j.brainres.2006.08.115 10.1016/j.neuropharm.2016.12.010 10.1073/pnas.1514657112 10.1016/j.drudis.2009.06.009 10.1016/j.neuropharm.2010.05.002 10.1016/j.neulet.2004.11.087 10.1371/journal.pone.0131486 10.4161/15384101.2014.989114 10.1101/gr.116764.110 10.1016/j.neuropharm.2014.06.028 10.1016/j.lfs.2018.01.007 10.1186/s11689-017-9184-y 10.1007/s10803-010-0988-9 10.1016/j.jpsychires.2014.07.011 10.1186/s11689-017-9207-8 10.2174/1574887113666180227100217 10.1038/npp.2015.66 10.1523/ENEURO.0380-16.2017 10.1038/npp.2017.236 10.1126/scitranslmed.3004218 10.1126/scitranslmed.3004214 10.1007/s10803-013-1963-z 10.1016/j.tins.2005.03.010 10.3389/fneur.2019.01407 10.1523/JNEUROSCI.4447-13.2014 10.1038/s41380-018-0048-y 10.1126/science.1247190 10.1016/j.biopsych.2016.08.036 10.1186/s13041-016-0256-9 10.1523/JNEUROSCI.1069-16.2016 10.3389/fncel.2015.00034 10.3389/fgene.2013.00222 10.1093/hmg/ddu056 10.1073/pnas.1717082115 10.1176/ajp.2006.163.9.1622 10.1186/s13229-020-00330-9 10.1016/j.cell.2019.07.024 10.1073/pnas.0804678105 10.1093/hmg/ddu586
Nature Reviews. Neuroscience; Deng PY, Klyachko VA

Apr 8th, 2021 - Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and the leading monogenic cause of autism. The condition stems from loss of fragile X mental retardation protein (FMRP), which regulates a wide range of ion chan...

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter Eu...
https://doi.org/10.1016/j.seizure.2021.03.025
Seizure Raviglione F, Douzgou S et. al.

Apr 8th, 2021 - Epilepsy is a main manifestation in the autosomal dominant mental retardation syndrome caused by heterozygous variants in MEF2C. We aimed to delineate the electro-clinical features and refine the genotype-phenotype correlations in patients with ME...

Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype...
https://doi.org/10.1016/j.nbd.2021.105338
Neurobiology of Disease; Di Marco B, Dell'Albani P et. al.

Mar 29th, 2021 - Fragile X syndrome (FXS) is a common form of intellectual disability and autism caused by the lack of Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in RNA transport and protein synthesis. Upon cellular stress, global...

Pathogenic variants of PROC gene caused type II activity deficiency in a Chinese family...
https://doi.org/10.1097/MD.0000000000025160
Medicine Zhu H, Liu H et. al.

Mar 25th, 2021 - Hereditary Protein C (PC) deficiency is a rare genetic disorder caused by PROC gene mutation. In this article, we report a case of PC deficiency in a Chinese family due to a novel PROC gene mutation. The proband presented with recurrent cerebral i...

Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome.
https://doi.org/10.1002/mds.28559
Movement Disorders : Official Journal of the Movement Dis... Salcedo-Arellano MJ, Wang JY et. al.

Mar 24th, 2021 - Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disease of late onset developed by carriers of the premutation in the fragile x mental retardation 1 (FMR1) gene. Pathological features of neurodegeneration in fragile X-associated...

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Guidelines  2 results

No. 240-Cytomegalovirus Infection in Pregnancy.
https://doi.org/10.1016/j.jogc.2017.11.018
Journal of Obstetrics and Gynaecology Canada : JOGC = Jou... Yinon Y, Farine D et. al.

Feb 15th, 2018 - To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. Effective management of fetal infection following primary and secondary maternal CMV infection d...

Cytomegalovirus infection in pregnancy.
https://doi.org/10.1016/S1701-2163(16)34480-2
Journal of Obstetrics and Gynaecology Canada : JOGC = Jou... Yinon Y, Farine D et. al.

May 26th, 2010 - To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. Effective management of fetal infection following primary and secondary maternal CMV infection d...

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Drugs  181 results see all →

Clinicaltrials.gov  6,923 results

Channelopathies in fragile X syndrome.
https://doi.org/10.1038/s41583-021-00445-9 10.1146/annurev.genom.8.080706.092249 10.1002/ajmg.a.38504 10.1016/j.neuron.2015.06.017 10.1038/ng0893-335 10.1016/j.brainresbull.2014.01.002 10.1113/JP270675 10.1016/j.neuron.2015.07.033 10.1038/s41398-019-0650-z 10.1111/j.1469-8749.2002.tb00277.x 10.1053/seiz.2000.0492 10.1002/(SICI)1096-8628(19990402)83:4<268::AID-AJMG7>3.0.CO;2-K 10.1002/(SICI)1096-8628(19960809)64:2<388::AID-AJMG31>3.0.CO;2-9 10.1093/sleep/33.5.679 10.1155/2019/5202808 10.1016/S0306-4522(01)00036-7 10.1111/j.1528-1157.2000.tb01499.x 10.1016/j.neuropharm.2005.06.004 10.1016/j.neuron.2012.01.034 10.3389/fncel.2013.00046 10.1016/j.celrep.2015.03.065 10.1038/nm.3127 10.1016/j.brainres.2013.02.038 10.1523/JNEUROSCI.0651-17.2017 10.1038/sj.mp.4001432 10.1016/j.neuroscience.2013.04.058 10.1038/npp.2014.291 10.1016/j.bbr.2012.01.031 10.1016/j.ijdevneu.2014.07.002 10.1016/j.ijdevneu.2014.05.003 10.1023/A:1022606200636 10.1152/jn.90752.2008 10.1523/JNEUROSCI.3157-11.2011 10.1038/nn.3033 10.1038/nn.3415 10.1038/s41467-019-12736-y 10.1038/s41593-018-0231-0 10.1523/JNEUROSCI.2310-16.2017 10.1002/cne.24290 10.1371/journal.pone.0117266 10.1523/JNEUROSCI.1777-05.2005 10.1113/JP271031 10.1113/JP271190 10.1152/jn.00413.2016 10.1152/jn.00597.2013 10.1002/jnr.23632 10.1523/JNEUROSCI.1714-10.2010 10.1523/JNEUROSCI.2764-12.2013 10.1073/pnas.1002262107 10.1523/JNEUROSCI.1593-18.2018 10.1016/j.celrep.2016.08.046 10.1523/JNEUROSCI.0839-18.2019 10.1113/JP274258 10.1016/j.neuron.2007.04.028 10.1016/j.celrep.2012.02.002 10.1038/nn.3864 10.1523/ENEURO.0114-15.2015 10.1038/s41467-019-11891-6 10.1038/ncomms4628 10.1016/j.nbd.2020.104779 10.1016/j.neuron.2012.12.018 10.1523/JNEUROSCI.2021-11.2011 10.1016/j.expneurol.2017.08.008 10.1038/s41380-018-0240-0 10.1093/cercor/bhn159 10.1016/S0092-8674(01)00566-9 10.1523/JNEUROSCI.1125-10.2010 10.1016/j.neuroscience.2010.02.046 10.1016/S0166-2236(00)01892-0 10.1038/nn.2563 10.1523/JNEUROSCI.2162-12.2012 10.1016/bs.irn.2016.04.001 10.1038/nrn1992 10.1073/pnas.1423094112 10.1186/s13023-014-0124-6 10.1085/jgp.202012634 10.1016/j.neuron.2013.02.001 10.1085/jgp.201912502 10.1523/JNEUROSCI.0317-15.2015 10.1038/s41467-021-21820-1 10.1038/npp.2017.149 10.1038/nrn2148 10.1523/ENEURO.0217-19.2019 10.1101/cshperspect.a003947 10.1016/j.stemcr.2018.11.003 10.3389/fnmol.2018.00342 10.1523/JNEUROSCI.1443-17.2019 10.1038/s41467-020-16250-4 10.1073/pnas.1616206113 10.1016/j.neuron.2004.07.014 10.1016/j.cell.2011.06.013 10.1523/JNEUROSCI.6661-10.2011 10.1016/j.neuron.2011.09.033 10.1523/JNEUROSCI.3256-13.2013 10.1016/S0306-4522(03)00406-8 10.1523/JNEUROSCI.15-10-06879.1995 10.1113/jphysiol.2013.270058 10.1523/JNEUROSCI.1670-19.2020 10.1073/pnas.122205699 10.1006/mcne.2001.1085 10.1523/JNEUROSCI.2638-05.2005 10.1523/JNEUROSCI.1496-08.2008 10.1101/gad.232470.113 10.1016/j.celrep.2015.05.013 10.1089/cap.2006.16.525 10.1074/jbc.M109.042663 10.1016/j.neuron.2010.01.005 10.1002/jnr.22546 10.1093/cercor/bht237 10.1016/j.neubiorev.2016.06.033 10.1002/hipo.20890 10.3389/fnmol.2018.00495 10.1177/2398212819858249 10.1016/j.ejpn.2019.12.022 10.1016/j.nbd.2005.07.017 10.1016/j.brainres.2006.08.115 10.1016/j.neuropharm.2016.12.010 10.1073/pnas.1514657112 10.1016/j.drudis.2009.06.009 10.1016/j.neuropharm.2010.05.002 10.1016/j.neulet.2004.11.087 10.1371/journal.pone.0131486 10.4161/15384101.2014.989114 10.1101/gr.116764.110 10.1016/j.neuropharm.2014.06.028 10.1016/j.lfs.2018.01.007 10.1186/s11689-017-9184-y 10.1007/s10803-010-0988-9 10.1016/j.jpsychires.2014.07.011 10.1186/s11689-017-9207-8 10.2174/1574887113666180227100217 10.1038/npp.2015.66 10.1523/ENEURO.0380-16.2017 10.1038/npp.2017.236 10.1126/scitranslmed.3004218 10.1126/scitranslmed.3004214 10.1007/s10803-013-1963-z 10.1016/j.tins.2005.03.010 10.3389/fneur.2019.01407 10.1523/JNEUROSCI.4447-13.2014 10.1038/s41380-018-0048-y 10.1126/science.1247190 10.1016/j.biopsych.2016.08.036 10.1186/s13041-016-0256-9 10.1523/JNEUROSCI.1069-16.2016 10.3389/fncel.2015.00034 10.3389/fgene.2013.00222 10.1093/hmg/ddu056 10.1073/pnas.1717082115 10.1176/ajp.2006.163.9.1622 10.1186/s13229-020-00330-9 10.1016/j.cell.2019.07.024 10.1073/pnas.0804678105 10.1093/hmg/ddu586
Nature Reviews. Neuroscience; Deng PY, Klyachko VA

Apr 8th, 2021 - Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and the leading monogenic cause of autism. The condition stems from loss of fragile X mental retardation protein (FMRP), which regulates a wide range of ion chan...

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter Eu...
https://doi.org/10.1016/j.seizure.2021.03.025
Seizure Raviglione F, Douzgou S et. al.

Apr 8th, 2021 - Epilepsy is a main manifestation in the autosomal dominant mental retardation syndrome caused by heterozygous variants in MEF2C. We aimed to delineate the electro-clinical features and refine the genotype-phenotype correlations in patients with ME...

Perphenazine - perphenazine tablet, film coated-REMEDYREPACK INC.
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=ed5eb026-284c-413a-8a10-0a8a3870ef5e

Apr 8th, 2021 - Perphenazine is indicated for use in the treatment of schizophrenia and for the control of severe nausea and vomiting in adults. Perphenazine has not been shown effective for the management of behavioral complications in patients with mental retar...

Perphenazine - perphenazine tablet, film coated-Par Pharmaceutical, Inc.
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=5fbfe9da-26e8-4705-98f3-42acd3d7b439

Apr 5th, 2021 - Perphenazine is indicated for use in the treatment of schizophrenia and for the control of severe nausea and vomiting in adults. Perphenazine has not been shown effective for the management of behavioral complications in patients with mental retar...

Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype...
https://doi.org/10.1016/j.nbd.2021.105338
Neurobiology of Disease; Di Marco B, Dell'Albani P et. al.

Mar 29th, 2021 - Fragile X syndrome (FXS) is a common form of intellectual disability and autism caused by the lack of Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in RNA transport and protein synthesis. Upon cellular stress, global...

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News  69 results

Febrile Seizures: Evaluation and Treatment
https://www.mdedge.com/jcomjournal/article/145853/pediatrics/febrile-seizures-evaluation-and-treatment/page/0/7

Jul 1st, 2017 - The physician decides to discontinue the medication suspected to aggravate the seizures and chooses to start the child on clobazam. The physician also begins evaluation for Dravet syndrome by sending directed SCN1A genetic testing.

Down syndrome in adolescents
https://www.mdedge.com/familymedicine/article/134443/adolescent-medicine/down-syndrome-adolescents
Pediatric News; Francine Pearce, MD

Mar 28th, 2017 - Teen years, no doubt, come with expected challenges. For teens with Down syndrome (DS), the challenges are exponentially greater.

Fast Five Quiz: How Much Do You Know About Alcoholism?
https://reference.medscape.com/viewarticle/874866_1

Jan 25th, 2017 - Alcoholism is a common, serious, destructive, and expensive problem, both medically and socially. Physicians encounter alcohol-related cirrhosis, cardiomyopathy, pancreatitis, and gastrointestinal bleeding, as well as intoxication and alcohol addi...

Fast Five Quiz: How Much Do You Know About Alcoholism?
https://reference.medscape.com/viewarticle/874866

Jan 25th, 2017 - Alcoholism is a common, serious, destructive, and expensive problem, both medically and socially. Physicians encounter alcohol-related cirrhosis, cardiomyopathy, pancreatitis, and gastrointestinal bleeding, as well as intoxication and alcohol addi...

Cardiofaciocutaneous Syndrome and the Dermatologist’s Contribution to Diagnosis
https://www.mdedge.com/dermatology/article/129143/rare-diseases/cardiofaciocutaneous-syndrome-and-dermatologists/page/0/1

Jan 11th, 2017 - The RASopathies are a class of human genetic syndromes that are caused by germ line mutations in genes that encode components of the RAS/MAPK pathway. 1 There are many syndromes classified as RASopathies (Table).

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Patient Education  1 results see all →