4 free views remaining today
developmental and epileptic encephalopathy 11
Description
Developmental and Epileptic Encephalopathy 11 (DEE11)
Developmental and Epileptic Encephalopathy 11, also known as DEE11, is a rare neurologic disorder characterized by the onset of seizures in the first days, weeks, or months of life. The seizures can be refractory to medication and may comprise multiple types, including tonic, generalized, and myoclonic.
Key Features:
- Early Onset: Seizures typically begin within the first few months of life.
- Refractory Seizures: Seizures are often resistant to medication.
- Multiple Seizure Types: Tonic, generalized, and myoclonic seizures can occur.
- Delayed Neurologic Development: Patients may experience delayed neurologic development.
Genetic Basis:
DEE11 is caused by a mutation in the SCN2A gene. This genetic mutation leads to the development of DEE11, which is characterized by early infantile epileptic encephalopathy.
References:
- [1] Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. Some patients may have later onset. Seizures comprise multiple types, including tonic, generalized, and myoclonic, and tend to be refractory to medication. [1]
- [5] Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life.
- [6] Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.
Note: The above information is based on the search results provided and may not be an exhaustive description of DEE11.
Additional Characteristics
- Early Onset
- Refractory Seizures
- Developmental and Epileptic Encephalopathy 11 (DEE11)
- Multiple Seizure Types
- Delayed Neurologic Development
- mutation in the SCN2A gene
Signs and Symptoms
Common Signs and Symptoms of Developmental and Epileptic Encephalopathy 11 (DEE11)
Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. The following are some common signs and symptoms associated with DEE11:
- Seizures: Onset of seizures in the first days, weeks, or months of life [1][3][4]
- Microcephaly: Small head size [2]
- Hypotonia: Low muscle tone [2][6]
- Abnormal movements: Dystonia, a type of movement disorder characterized by involuntary muscle contractions [2]
- Intellectual disability: Severe intellectual disability is a common feature of DEE11 [5][9]
- Poor language skills: Difficulty with language development and communication [9]
- Difficulty walking: Motor skill delays or difficulties with walking and coordination [9]
Additional Symptoms
Some individuals with DEE11 may also experience:
- Generalized and symmetrical tonic spasms: A type of seizure characterized by muscle stiffness and rigidity [6]
- EEG abnormalities: Abnormalities in electroencephalogram (EEG) readings, such as slow or fast brain wave patterns [9]
It's essential to note that the phenotype of DEE11 can vary significantly among individuals, even within the same family. A comprehensive medical evaluation and diagnostic testing are necessary for an accurate diagnosis.
References:
[1] Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. [2] Common features include microcephaly, hypotonia, and abnormal movements like dystonia. Brain imaging may reveal white matter defects. [3] Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. [4] Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. [5] DEEs commonly begin in infancy or childhood and are associated with frequent seizures of multiple different types, intellectual disability and significant developmental delays. [6] Neonates have poor suckling reflexes, hypotonia and manifest with generalized and symmetrical tonic spasms that can appear in clusters or singly and can last for several minutes. [9] Symptoms include severe intellectual disability, poor language skills, hypotonia, and difficulty walking. EEG findings show various abnormalities, such as slow or fast brain wave patterns.
Additional Symptoms
- Hypotonia
- Difficulty walking
- Microcephaly
- Seizures
- Intellectual disability
- Abnormal movements
- EEG abnormalities
- Poor language skills
- Generalized and symmetrical tonic spasms
Diagnostic Tests
Diagnostic Tests for Developmental and Epileptic Encephalopathy 11 (DEE11)
Developmental and Epileptic Encephalopathy 11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life [7]. Diagnostic tests play a crucial role in identifying this condition. Here are some diagnostic tests that may be used to diagnose DEE11:
- Genetic testing: Genetic testing via blood, saliva samples, or a skin biopsy can help identify genetic mutations associated with DEE11 [4].
- Next-generation sequencing (NGS): NGS using a panel of genes related to DEE11 can also help identify the precise aetiology of the condition [8].
- Neuroimaging: Neuroimaging, such as magnetic resonance imaging (MRI), may be used to rule out other conditions that may present with similar symptoms [6].
Diagnostic Yield
Studies have shown that targeted NGS gene panel testing can be an efficient diagnostic tool in detecting the genetic basis of DEE11 in a large proportion of cases [10]. In fact, one study found that whole-genome sequencing had a diagnostic yield of 5% in identifying the cause of epileptic encephalopathy in childhood [3].
References
- [7] Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life.
- [4] If a person has DEE, the diagnosis and evaluation may include: Genetic testing via blood, saliva samples or a skin biopsy;
- [8] Aug 27, 2024 — Genetic testing could help identify the precise aetiology. ... The most widely used technique is next-generation sequencing, using a panel of up to 100 genes.
- [6] by P Agarwala · 2023 · Cited by 3 — The initial evaluation of children with EIDEE includes a review of medical history, physical examination, neuroimaging [magnetic resonance imaging (MRI)] and, ...
- [10] by F Essajee · 2022 · Cited by 13 — Targeted NGS gene panel testing proved an efficient diagnostic tool in the detection of the genetic basis of DEE in a large proportion of South.
- [3] Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Additional Diagnostic Tests
- Genetic testing
- Next-generation sequencing (NGS)
- Neuroimaging
Treatment
Treatment Options for Developmental and Epileptic Encephalopathy
Developmental and epileptic encephalopathy (DEE) is a severe form of epilepsy that affects individuals with intellectual disability. The treatment options for DEE are limited, but various medications and therapies have been explored to manage the condition.
- Antiseizure Medications: Anticonvulsants such as clobazam, vigabatrin, zonisamide, phenobarbital, benzodiazapines, and others may be used to control seizures in individuals with DEE [4]. However, these medications can have significant side effects and may not be effective for everyone.
- Fenfluramine: Fenfluramine is a medication that has been licensed for the adjunctive treatment of seizures associated with Dravet syndrome and Lennox-Gastaut Syndrome (LGS), which are similar to DEE [6]. However, its efficacy in treating DEE specifically is not well established.
- Stiripentol: Stiripentol is a positive allosteric modulator of type-A GABA receptors that has been shown to be effective in reducing seizures in individuals with DEE [6].
- Next-generation sequencing: Next-generation sequencing (NGS) has improved treatment efficacy and reduced hospitalization rates in children with drug-resistant epilepsy, including those with DEE [7]. This suggests that genetic testing may play a crucial role in identifying the underlying causes of DEE and developing personalized treatment plans.
- Other Therapies: In addition to medications, other therapies such as hormonal and immune therapies have been explored for treating DEE. However, more research is needed to determine their efficacy and safety [2].
It's essential to note that each individual with DEE may respond differently to these treatments, and a comprehensive treatment plan should be developed in consultation with a healthcare professional.
References: [1] Not provided [2] Nariai H (2018) Hormonal and immune therapies for epilepsy. Cited by 45. [3] Johannessen Landmark CJ (2021) Antiseizure medications: A review of the literature. Cited by 41. [4] Search result 4 (2022) [5] Search result 5 (2022) [6] Sills GJ (2023) Fenfluramine and stiripentol for epilepsy. Cited by 10. [7] Peng J et al. (2019) Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy.
Recommended Medications
- stiripentol
- benzodiazapines
- vigabatrin
- Vigabatrin
- phenobarbital
- Phenobarbital
- zonisamide
- clobazam
- fenfluramine
- Fenfluramine
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Developmental and Epileptic Encephalopathy
Developmental and epileptic encephalopathy (DEE) is a complex condition that requires a comprehensive differential diagnosis to accurately diagnose and treat. The following conditions are often considered in the differential diagnosis of DEE:
- Early Myoclonic Encephalopathy: This condition is characterized by early onset myoclonic seizures, developmental delay, and intellectual disability.
- West Syndrome: Also known as infantile spasms, this condition is marked by a specific type of seizure that occurs in infants, often accompanied by developmental delays and intellectual disability.
- Other Early-Onset Epileptic Encephalopathies: These include conditions such as Othahara syndrome, early myoclonic encephalopathy, and others.
Key Considerations
When considering the differential diagnosis of DEE, it is essential to take into account the following factors:
- Clinical Presentation: The age of onset, type of seizures, and developmental delays or intellectual disability are crucial in narrowing down the differential diagnoses.
- Electroencephalogram (EEG) Results: Abnormal EEG findings can provide valuable information in diagnosing DEE and distinguishing it from other conditions.
- Genetic Testing: Genetic testing may be necessary to identify underlying genetic causes of DEE, which can inform treatment planning.
References
[6] Diagnosing an infant with EIDEE syndrome is based on signs and symptoms. It is also based on the baby's EEG results, which is the most important factor in making a diagnosis. [7] Differential diagnoses include other epileptic encephalopathies such as early myoclonic encephalopathy, West syndrome (see these terms) and other early onset epileptic encephalopathies.
Additional Differential Diagnoses
- Other Early-Onset Epileptic Encephalopathies
- West syndrome
- N syndrome
- early myoclonic encephalopathy
Additional Information
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_2790
- owl#annotatedSource
- t353611
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0080421
- core#notation
- DOID:0080421
- oboInOwl#hasDbXref
- MIM:613721
- oboInOwl#hasExactSynonym
- early infantile epileptic encephalopathy 11
- rdf-schema#label
- developmental and epileptic encephalopathy 11
- IAO_0000115
- A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.
- rdf-schema#subClassOf
- t353678
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.