GRIN2B-related neurodevelopmental disorder
עודכן לאחרונה 2 אוג 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.
תיאור
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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
EIEE27
Epileptic encephalopathy, early infantile, 27
GRIN2B encephalopathy
GRIN2B related syndrome
Related patient information and medicines
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דיספרקסיה
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סומטיזציה והפרעות תפקודיות
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הפרעות פסיכוסומטיות
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הפרעות על הספקטרום האוטיסטי
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תסמונת דיוגנס
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קריאה נוספת והפניות
- GRIN2B-related neurodevelopmental disorder; MedlinePlus, National Library of Medicine.
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- 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.
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- 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/
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- 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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