Developmental And Epileptic Encephalopathy 27
Disease Details
Family Health Simplified
- Description
- Developmental and epileptic encephalopathy 27 (DEE27) is a rare genetic disorder characterized by severe developmental delay, early-onset intractable seizures, and often profound intellectual disability.
- Type
- Developmental and epileptic encephalopathy 27 (DEE27) is primarily classified as a genetic disorder. The type of genetic transmission for DEE27 is autosomal dominant.
- Signs And Symptoms
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Developmental and epileptic encephalopathy 27 (DEE27) is a rare genetic disorder characterized by the following signs and symptoms:
- **Severe Developmental Delay**: Infants typically exhibit significant delays in reaching developmental milestones.
- **Early-Onset Epilepsy**: Seizures often begin in infancy or early childhood, and can be difficult to control with standard treatments.
- **Intellectual Disability**: Affected individuals usually experience varying degrees of intellectual impairment.
- **Motor Dysfunction**: This may include muscle stiffness (spasticity) and poor coordination.
- **Movement Disorders**: Involuntary movements or abnormal gait may be present.
The specific symptoms can vary widely among affected individuals, reflecting the broad spectrum of severity associated with the disorder. - Prognosis
- Developmental and epileptic encephalopathy 27 (DEE27) is a severe neurological condition characterized by early-onset epilepsy and profound developmental delays. The prognosis for individuals with DEE27 is generally poor due to the combination of refractory seizures and developmental impairments. Many affected individuals experience significant cognitive and motor deficits. The condition is often life-long, and the severity can vary, but most patients require comprehensive medical management and supportive therapies.
- Onset
- Developmental and epileptic encephalopathy 27 (DEE27) typically has an onset in early infancy. This genetic disorder often presents within the first few months of life.
- Prevalence
- The prevalence of Developmental and Epileptic Encephalopathy 27 (DEE27) is not well-documented, but it is considered to be extremely rare. Specific prevalence data is not available.
- Epidemiology
- Developmental and epileptic encephalopathy 27 (DEE27) is an ultra-rare genetic disorder. The precise prevalence and incidence of DEE27 are not well-defined due to its rarity. Reports suggest it is associated with mutations in the GRIN2B gene. Cases have been reported globally, but comprehensive epidemiological data are lacking. It typically presents in infancy or early childhood with severe developmental delay and refractory seizures.
- Intractability
- Developmental and epileptic encephalopathy 27 (DEE27) is often considered intractable. This means that the seizures associated with this condition are generally resistant to standard anti-epileptic treatments. Effective management typically requires a comprehensive and individualized approach, often involving a combination of medications and other therapeutic strategies.
- Disease Severity
- Developmental and Epileptic Encephalopathy 27 (DEE27) is a severe neurodevelopmental disorder characterized by early-onset seizures and significant developmental delays. The condition typically presents in infancy or early childhood with frequent, treatment-resistant seizures. Patients often experience profound cognitive and motor impairments. The severity of the disease can vary, but it generally has a considerable impact on the quality of life and daily functioning.
- Healthcare Professionals
- Disease Ontology ID - DOID:0080444
- Pathophysiology
- Developmental and epileptic encephalopathy 27 (DEE27) is a severe neurological condition typically characterized by refractory seizures and developmental delays. The pathophysiology of DEE27 is associated with mutations in the GRIN2B gene, which encodes a subunit of the NMDA (N-methyl-D-aspartate) receptor, crucial for synaptic transmission and plasticity in the brain. These mutations often result in either gain-of-function or loss-of-function, disrupting normal neuronal signaling and leading to the severe clinical manifestations seen in affected individuals.
- Carrier Status
- Developmental and Epileptic Encephalopathy 27 (DEE27) is a rare genetic disorder. Carrier status refers to an individual who has one copy of a mutated gene but does not typically show symptoms of the disease. Being a carrier for DEE27 means that the person carries one mutated gene associated with the disorder, but usually, carriers do not exhibit the severe symptoms observed in individuals with two copies of the mutated gene. However, having a carrier status can imply a risk of passing on the mutation to offspring.
- Mechanism
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Developmental and epileptic encephalopathy 27 (DEE27) is a severe form of epilepsy that presents with developmental delays and a variety of seizure types.
**Mechanism:**
DEE27 is primarily caused by mutations in the *GRIN2B* gene, which encodes for the GluN2B subunit of the N-methyl-D-aspartate (NMDA) receptor. This receptor plays a crucial role in synaptic transmission and plasticity in the central nervous system.
**Molecular Mechanisms:**
1. **Gene Mutation:** Mutations in the *GRIN2B* gene can lead to altered structure and function of the GluN2B subunit.
2. **NMDA Receptor Dysfunction:** The NMDA receptors, which are ion channels in the brain, exhibit altered gating and ion flow due to these mutations. This can disrupt normal synaptic signaling.
3. **Synaptic Plasticity:** As a result of impaired NMDA receptor function, synaptic plasticity—critical for learning and memory—is compromised. This contributes to the developmental delays and cognitive impairments observed in DEE27.
4. **Neuronal Excitability:** Abnormal NMDA receptor activity can lead to increased neuronal excitability and susceptibility to seizures, characteristic of epileptic encephalopathies.
Understanding these molecular mechanisms is critical for developing targeted therapeutic strategies for DEE27. - Treatment
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Developmental and epileptic encephalopathy 27 (DEE27) treatment primarily focuses on managing symptoms, particularly seizures. There is no cure currently. Treatment options may include:
- **Antiepileptic Medications:** Prescribed to control seizures. The choice of medication can vary depending on the specific needs of the patient.
- **Ketogenic Diet:** A high-fat, low-carbohydrate diet that may help reduce seizure frequency in some patients.
- **Vagus Nerve Stimulation (VNS):** A device implanted to stimulate the vagus nerve, which can help control seizures.
- **Occupational and Physical Therapy:** Helps improve motor skills and overall development.
- **Behavioral and Cognitive Therapies:** Depending on the individual's needs, these therapies can assist with developmental concerns and improve quality of life.
Close monitoring by a multidisciplinary team of healthcare providers is essential for adjusting treatments as needed and for addressing the diverse needs of individuals with DEE27. - Compassionate Use Treatment
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Developmental and epileptic encephalopathy 27 (DEE27) is a severe form of early-onset epilepsy often accompanied by developmental delays. For conditions like DEE27, compassionate use treatments and off-label or experimental therapies might be considered, especially when conventional treatments are ineffective. Here are some possibilities:
1. **Fenfluramine:** Recently approved for certain types of epilepsy, Fenfluramine has shown promise in treating severe forms of epilepsy, including Dravet syndrome, which has some similarities to DEE27.
2. **Cannabidiol (CBD):** Specifically, FDA-approved Epidiolex has been used for treatment-resistant epilepsy. It may be considered for off-label use in DEE27, under medical supervision.
3. **Genetic Therapies:** In cases where DEE27 is linked to specific genetic mutations, experimental gene therapies or targeted treatments may be explored.
4. **Ketogenic Diet:** Though not a medication, a ketogenic diet can sometimes reduce seizure frequency and severity in drug-resistant forms of epilepsy.
5. **Vagus Nerve Stimulation:** Another non-drug treatment that can be considered for refractory epilepsy.
Consultation with a neurologist or an epilepsy specialist is crucial to determine the suitability and safety of these treatments. - Lifestyle Recommendations
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For individuals with Developmental and Epileptic Encephalopathy 27 (DEE27), lifestyle recommendations typically focus on improving quality of life and managing symptoms. These may include:
1. **Medical Care**: Regular follow-ups with neurologists and pediatricians for optimal management of seizures and other related health issues.
2. **Medication Adherence**: Strict adherence to prescribed antiepileptic medications to control seizures.
3. **Safety Measures**: Creating a safe environment to prevent injury during seizures, such as padded furniture corners and constant supervision.
4. **Therapies**: Engaging in physical, occupational, and speech therapy to support developmental delays and improve motor and communication skills.
5. **Nutritional Support**: Ensuring a balanced diet and considering special dietary plans if recommended by healthcare providers.
6. **Educational Support**: Working with special education professionals to tailor learning approaches according to individual needs.
7. **Support Groups**: Joining patient support groups for social support and information sharing with other families facing similar challenges.
8. **Emergency Preparedness**: Planning and educating family and caregivers on emergency protocols to handle severe seizures.
Consulting healthcare providers for personalized recommendations is crucial. - Medication
- Developmental and epileptic encephalopathy 27 (DEE27) is a rare genetic condition. There is no single medication specifically approved for DEE27, but treatment often involves a combination of antiepileptic drugs (AEDs) tailored to the individual's needs. Some commonly used AEDs for seizure management in similar conditions can include valproate, levetiracetam, and clobazam. Treatment strategies should always be discussed and managed by a medical professional specializing in epileptic and genetic disorders. Additionally, supportive therapies such as physical therapy, occupational therapy, and speech therapy are often part of the comprehensive care approach.
- Repurposable Drugs
- Developmental and epileptic encephalopathy 27 (DEE27) is a rare genetic disorder caused by mutations in the SCN1B gene. Currently, there are no specific repurposable drugs identified for DEE27. Treatment typically focuses on managing symptoms, particularly seizures, using conventional antiepileptic drugs (AEDs). It’s essential for patients to work closely with their healthcare team to determine the most effective management plan. Research into potential therapies is ongoing.
- Metabolites
- Developmental and epileptic encephalopathy 27 (DEE27) is primarily linked to genetic mutations rather than metabolic disorders. Hence, specific metabolites aren't typically the focus in this condition. Genetic testing is the primary diagnostic tool.
- Nutraceuticals
- There is no widely recognized or specific nutraceutical treatment for Developmental and Epileptic Encephalopathy 27 (DEE27). This rare genetic disorder typically requires a comprehensive treatment plan involving anti-epileptic drugs, therapies, and supportive care under the guidance of medical professionals. Nutraceuticals are not a standard or proven approach for managing DEE27. For personalized advice, it is important to consult a healthcare provider.
- Peptides
- Developmental and epileptic encephalopathy 27 (DEE27) is a severe genetic condition characterized by early-onset epilepsy and developmental delays. Specific peptides directly associated with DEE27 are not typically described in the literature. However, targeted research in molecular biology and genetics may involve peptides for studying protein interactions, particularly involving the CACNA1H gene, which is often mutated in DEE27. Nan refers to a nanomolar concentration, which is a unit of measure in molecular biology often used to describe the concentration of substances like peptides in solution.