GRIN2B-related neurodevelopmental disorder
Última actualización 2 Aug 2023
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GRIN2B-related neurodevelopmental disorder is a condition that affects the nervous system. Neurodevelopmental disorders result from impaired growth and development of the central nervous system, which includes the brain and spinal cord, and the nerves connecting them. These disorders often affect learning ability, memory, and behaviour and can be associated with other neurological problems.
Descripción
GRIN2B-related neurodevelopmental disorder is a condition that affects the nervous system. Neurodevelopmental disorders result from impaired growth and development of the central nervous system, which includes the brain and spinal cord, and the nerves connecting them. These disorders often affect learning ability, memory, and behaviour and can be associated with other neurological problems.
Individuals with GRIN2B-related neurodevelopmental disorder have mild to profound intellectual disability and delayed development of speech and motor skills, such as sitting and walking. Some affected individuals never develop speech or the ability to walk on their own. Many people with this condition have weak muscle tone (hypotonia), which can contribute to the problems developing motor skills and lead to difficulty eating. Some affected individuals have abnormal muscle stiffness (spasticity), which can also cause problems with movement.
Recurrent seizures (epilepsy) occur in about half of people with GRIN2B-related neurodevelopmental disorder. About one-quarter of affected individuals have features of autism spectrum disorder, which is characterised by impaired communication and social interaction. Affected individuals may also be hyperactive, impulsive, or easily distractible, and some are described as being overly friendly. Sleeping difficulties can also occur in this condition.
Less common features of GRIN2B-related neurodevelopmental disorder include structural brain abnormalities, an unusually small head size (microcephaly), impaired vision, and involuntary muscle movements.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
EIEE27
Epileptic encephalopathy, early infantile, 27
GRIN2B encephalopathy
GRIN2B related syndrome
Related patient information and medicines
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Trastorno neurológico funcional
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Dispraxia
Developmental co-ordination disorder (DCD), also known as dyspraxia, is a common condition which mainly affects motor co-ordination - the way the body organises and carries out movement-related tasks. It can also affect other activities, including speech. Dyspraxia occurs in children and adults. Dyspraxia means poor co-ordination, but the term.
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Somatización y trastornos funcionales
Somatización is no longer a commonly used term. What used to be considered somatising symptoms or somatoform disorders are now more commonly termed "functional disorders" o "functional symptoms". Somatización is a word that means that the symptoms that you are experiencing are not due to a specific disease process but are caused by other.
Patient information leaflet
Trastornos psicosomáticos
Psychosomatic means mind (psyche) and body (soma). A psychosomatic disorder es a disease cuál involves both mind and body. What are psychosomatic disorders. Psychosomatic disorders are conditions which cause troublesome, distressing physical symptoms, caused by the autonomic nervous system not functioning correctly. The autonomic nervous system.
Patient information leaflet
Trastornos del espectro autista
Autism spectrum disorder (ASD), commonly known as autism, affects the way that a person communicates with, and relates to, other people. The National Autistic Society defines autism as 'a lifelong developmental disability which affects how people communicate and interact with the world'. People with autism spectrum disorders usually need.
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Síndrome de Diógenes
Diogenes syndrome is uncommon pero puede be easily missed, especially in an elderly person living on their own. Diogenes syndrome, also known as senile squalor syndrome or hoarding disorder, es un bipolar with extreme self-neglect, hoarding of garbage or animals, domestic squalor, social withdrawal, apathy, and a lack of insight into the problem and.
Lecturas adicionales y referencias
- GRIN2B-related neurodevelopmental disorder; MedlinePlus, National Library of Medicine.
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- Fedele L, Newcombe J, Topf M, Gibb A, Harvey RJ, Smart TG. Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties. Nat Commun. 2018 Mar 6;9(1):957. doi: 10.1038/s41467-018-02927-4.
- Freunscht I, Popp B, Blank R, Endele S, Moog U, Petri H, Prott EC, Reis A, Rubo J, Zabel B, Zenker M, Hebebrand J, Wieczorek D. Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. Behav Brain Funct. 2013 May 29;9:20. doi: 10.1186/1744-9081-9-20.
- Hu C, Chen W, Myers SJ, Yuan H, Traynelis SF. Human GRIN2B variants in neurodevelopmental disorders. J Pharmacol Sci. 2016 Oct;132(2):115-121. doi: 10.1016/j.jphs.2016.10.002. Epub 2016 Oct 19.
- Platzer K, Lemke JR. GRIN2B-Related Neurodevelopmental Disorder. 2018 May 31 [updated 2021 Mar 25]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK501979/
- Platzer K, Yuan H, Schutz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Stromme P, Biskup S, Docker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Moller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.
- Swanger SA, Chen W, Wells G, Burger PB, Tankovic A, Bhattacharya S, Strong KL, Hu C, Kusumoto H, Zhang J, Adams DR, Millichap JJ, Petrovski S, Traynelis SF, Yuan H. Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. Am J Hum Genet. 2016 Dec 1;99(6):1261-1280. doi: 10.1016/j.ajhg.2016.10.002. Epub 2016 Nov 10.
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