STXBP1 encephalopathy
Zuletzt aktualisiert 1. März 2023
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
STXBP1 encephalopathy is a condition characterised by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy). The signs and symptoms of this condition typically begin in infancy but can start later in childhood or early adulthood. In many affected individuals who have epilepsy, the seizures stop after a few years, and the other neurological problems continue throughout life. However, some people with STXBP1 encephalopathy have seizures that persist.
Beschreibung
STXBP1 encephalopathy is a condition characterised by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy). The signs and symptoms of this condition typically begin in infancy but can start later in childhood or early adulthood. In many affected individuals who have epilepsy, the seizures stop after a few years, and the other neurological problems continue throughout life. However, some people with STXBP1 encephalopathy have seizures that persist.
In people with STXBP1 encephalopathy, intellectual disability is often severe to profound. In addition, speech and motor skills, such as sitting, crawling, and walking, can be delayed. Though they may acquire the skill late, many children with the condition can walk independently by age 5. Affected individuals usually learn their first words later than their peers, sometimes not until late childhood. Some can communicate verbally using simple sentences, while others never develop the skill.
About 85 percent of people with STXBP1 encephalopathy develop epilepsy. The most common seizures in this condition are infantile spasms, which occur before age 1 and consist of involuntary muscle contractions. Other seizure types that can occur in people with this condition include uncontrolled muscle twitches (myoclonic seizures), sudden episodes of weak muscle tone (atonic seizures), partial or complete loss of consciousness (absence seizures), or loss of consciousness with muscle rigidity and convulsions (tonic-clonic seizures). Most people who have STXBP1 encephalopathy have more than one type of seizure. In about one-quarter of affected individuals, the seizures are described as refractory because they do not respond to therapy with anti-epileptic medications.
Other neurological problems that occur in people with STXBP1 encephalopathy include features of autism spectrum disorder; weak muscle tone (hypotonia); and movement problems, such as difficulty coordinating movements (ataxia), involuntary trembling (tremors), and muscle stiffness (spasticity). In some cases, areas of brain tissue loss (atrophy) have been found on medical imaging.
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
DEE4
Developmental and epileptic encephalopathy 4
Developmental and epileptic encephalopathy, type 4
Early-infantile epileptic encephalopathy 4
EIEE4
STXBP1 encephalopathy with epilepsy
STXBP1 epileptic encephalopathy
STXBP1-related developmental and epileptic encephalopathy
STXBP1-related early-onset encephalopathy
STXBP1-related epileptic encephalopathy
Related patient information and medicines
Patient information leaflet
Zöliakie
Coeliac disease (also spelled celiac disease) mainly affects the part of the gut called the small intestine. It can occur at any age. Gluten... Gluten neuropathy - a peripheral neuropathy that causes areas of numbness. Gluten encephalopathy - ein brain disorder which affects the way the whole of the Gehirn works causing headaches, unclear thinking.
Patient information leaflet
Leberversagen
Acute liver failure, which may even cause you to go into a coma. Severe difficulty mit brain functions caused by Leberversagen is called hepatic encephalopathy. How is liver failure diagnosed. Other treatments may be needed to treat any complications of liver failure such as excess fluid in your Gehirn (cerebral oedema), reduced ability of your.
Patient information leaflet
Leberzirrhose
Cirrhosis is a serious condition where normal liver tissue is replaced by scar tissue (fibrosis). It tends to progress slowly and often does not cause symptoms in its early stages. Eventually it can lead to loss of consciousness and hepatic coma. These changes are known as hepatic encephalopathy. The scar tissue restricts the flow of blood through.
Patient information leaflet
Paracetamol-Überdosierung
Paracetamol overdose is common and may occur accidentally or in the context of self-harm and suicide. After 24 hours there may be pain under the ribs on the right side (where the... Other features include: The Gehirn can also be affected with confusion and disorientation (called encephalopathy). The kidneys can also be affected with a reduction in.
Patient information leaflet
Alkoholgebrauchsstörung
Som... Stomach disorders. Severe inflammation of the pancreas (pancreatitis). Mental health problems, including depression , anxiety and various other problems. Wernicke's encephalopathy - an alcohol-related brain disorder treated with vitamin B1 (thiamine); Korsakoff syndrome is a chronic memory disorder caused by severe deficiency of vitamin B1,.
Patient information leaflet
HIV und Aids
In addition, people with AIDS have an increased risk of de... Kaposi's sarcoma is a cancer which is usually only seen in people with AIDS. There is also an increased risk of developing cancer of the neck of the womb (cervix) and lymphoma. An AIDS-related brain illness such as AIDS dementia (HIV encephalopathy). A severe body wasting syndrome. Many.
Weiterführende Lektüre und Referenzen
- STXBP1 encephalopathy; MedlinePlus, National Library of Medicine.
- Abramov D, Guiberson NGL, Burre J. STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies. J Neurochem. 2021 Apr;157(2):165-178. doi: 10.1111/jnc.15120. Epub 2020 Aug 4.
- Barcia G, Chemaly N, Gobin S, Milh M, Van Bogaert P, Barnerias C, Kaminska A, Dulac O, Desguerre I, Cormier V, Boddaert N, Nabbout R. Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype? Eur J Med Genet. 2014 Jan;57(1):15-20. doi: 10.1016/j.ejmg.2013.10.006. Epub 2013 Nov 1.
- Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29.
- Gupta A. STXBP1-Related EOEE - Early Onset Epilepsy AND Encephalopathy, or is it Early Onset Epileptic Encephalopathy? Epilepsy Curr. 2016 Sep-Oct;16(5):302-304. doi: 10.5698/1535-7511-16.5.302. No abstract available.
- Hamada N, Iwamoto I, Tabata H, Nagata KI. MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development. Acta Neuropathol Commun. 2017 Nov 30;5(1):92. doi: 10.1186/s40478-017-0498-5.
- Patzke C, Han Y, Covy J, Yi F, Maxeiner S, Wernig M, Sudhof TC. Analysis of conditional heterozygous STXBP1 mutations in human neurons. J Clin Invest. 2015 Sep;125(9):3560-71. doi: 10.1172/JCI78612. Epub 2015 Aug 17.
- Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destree A, Dilena R, Erasmus CE, Fannemel M, Fjaer R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Moller RS, Weckhuysen S. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10.
- Yamamoto T, Shimojima K, Yano T, Ueda Y, Takayama R, Ikeda H, Imai K. Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. Brain Dev. 2016 Mar;38(3):280-4. doi: 10.1016/j.braindev.2015.09.004. Epub 2015 Sep 16.
- Yamashita S, Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. Epilepsia. 2016 Apr;57(4):e81-6. doi: 10.1111/epi.13338. Epub 2016 Feb 25.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
1. März 2023 | Neueste Version
1 Jul 2017 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.