developmental and epileptic encephalopathy 7

Developmental and Epileptic Encephalopathy 7 (DEE7)

Developmental and Epileptic Encephalopathy 7, also known as DEE7, is a severe neurologic disorder characterized by the onset of refractory seizures in early infancy. This condition typically manifests in the neonatal period, with affected individuals experiencing resultant delayed neurologic development and persistent neurologic abnormalities.

Clinical Features

• Refractory seizures: The primary symptom of DEE7, which can be resistant to treatment.
• Delayed neurologic development: Affected individuals may experience significant delays in cognitive and motor skills development.
• Persistent neurologic abnormalities: Individuals with DEE7 often have ongoing neurologic problems, including seizures and developmental issues.

Genetic Aspects

• KCNQ2 gene variant: DEE7 is associated with a mutation in the KCNQ2 gene, which plays a crucial role in neuronal function.
• Autosomal dominant inheritance: The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

Other Relevant Information

• EEG initially shows a burst suppression pattern: In affected individuals, electroencephalogram (EEG) readings may display a characteristic burst suppression pattern.
• Severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability: The severity of DEE7 can vary significantly among individuals.

References

1. [1] Developmental and epileptic encephalopathy-7 (DEE7) is a neurologic disorder characterized by the onset of refractory seizures in early infancy, often in the neonatal period. Affected individuals have resultant delayed neurologic development and persistent neurologic abnormalities. EEG initially shows a burst suppression pattern ... [2]
2. Developmental and epileptic encephalopathy-7 (DEE7) is a severe neurologic disorder characterized by the onset of refractory seizures in early infancy. [5]
3. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Synonyms. DEE7; EIEE7; KCNQ2-NEE; KCNQ2- ... [7]

Developmental and Epileptic Encephalopathy 7 (DEE7) is a severe neurologic disorder characterized by the onset of refractory seizures in early infancy, often in the neonatal period [1]. The symptoms of DEE7 can vary in severity but typically include:

• Refractory seizures: These are seizures that do not respond to medication and can be very frequent [5].
• Delayed neurologic development: Affected individuals may experience significant delays in their developmental milestones, such as delayed motor skills or language development [1].
• Persistent neurologic abnormalities: DEE7 is associated with persistent neurologic abnormalities, including hypotonia (low muscle tone) and poor suckling reflexes [8].

In addition to these symptoms, individuals with DEE7 may also experience:

• Intellectual disability: The severity of intellectual disability can range from mild to severe [6].
• Behavioral problems: Some individuals with DEE7 may exhibit behavioral problems, such as aggression or anxiety [13].
• Seizure types: Tonic and myoclonic seizures are the most common types of seizures seen in DEE7 [4].

It's worth noting that the symptoms of DEE7 can be quite variable, and not all individuals will experience all of these symptoms. However, early diagnosis and treatment are crucial to managing the condition and improving outcomes.

References: [1] Developmental and epileptic encephalopathy-7 (DEE7) is a neurologic disorder characterized by the onset of refractory seizures in early infancy, often in the neonatal period. [4] The most common seizures include tonic and or myoclonic seizures. Infants could also have other ... [5] Developmental and epileptic encephalopathy-7 (DEE7) is a severe neurologic disorder characterized by the onset of refractory seizures in early infancy, often in the neonatal period. [6] The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Synonyms. DEE7; EIEE7; KCNQ2-NEE; KCNQ2- ... [8] Neonates have poor suckling reflexes, hypotonia and manifest with generalized and symmetrical tonic spasms that can appear in clusters or singly and can last ...

Diagnostic Tests for Developmental and Epileptic Encephalopathy 7 (DEE)

Developmental and Epileptic Encephalopathy 7 (DEE) is a rare genetic disorder that affects the development and function of the brain. Diagnosing DEE can be challenging, but several diagnostic tests are available to help identify this condition.

Genetic Testing

Genetic testing is a crucial step in diagnosing DEE. This test involves analyzing DNA samples from blood, saliva, or skin biopsies to identify genetic mutations associated with DEE (1). Targeted Next-Generation Sequencing (NGS) gene panel testing has proven to be an efficient diagnostic tool in detecting the genetic basis of DEE (8).

Molecular Testing

Molecular testing can also facilitate the diagnosis of DEE by identifying specific genetic mutations. This test is particularly useful for characterizing the aetiology of DEE and providing valuable information for treatment and management (7).

Other Diagnostic Tests

In addition to genetic and molecular testing, other diagnostic tests may be used to evaluate individuals with suspected DEE. These include:

• EEG Results: EEG results are an essential component in diagnosing DEE. An abnormal EEG pattern can indicate the presence of this condition (4).
• Sleep and Wake Cycle Evaluation: Evaluating a person's sleep and wake cycle can help identify abnormalities associated with DEE (6).

References

1. Clinical resource with information about Developmental and epileptic encephalopathy 7 and its clinical features, KCNQ2, available genetic tests from US and ...
2. 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. Molecular testing can facilitate the diagnosis of the aetiology of the DEE. Epilepsy syndromes are characterized by age of onset, seizure types, ...
4. Aug 2, 2022 — 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...
5. ... -SWAS). If a person has DEE, the diagnosis and evaluation may include: Genetic testing via blood, saliva samples or a skin biopsy; Sleep and wake...

Treatment Options for Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies that can be challenging to manage. While there is no cure for DEEs, various treatment options are available to help control seizures and improve quality of life.

• Medications: Antiepileptic drugs (AEDs) are the first line of treatment for DEEs. However, response to medication can be poor, and seizures may be difficult to control [7].
• Surgical Options: In some cases, surgical interventions such as corpus callosotomy or hemispherectomy may be considered for patients with severe and intractable seizures [7].
• Vagus Nerve Stimulation (VNS): VNS is a device that is implanted under the skin to stimulate the vagus nerve, which can help reduce seizure frequency.
• Ketogenic Diet: A ketogenic diet has been shown to be effective in reducing seizure frequency in some patients with DEEs.

It's essential to note that each patient with DEE is unique, and treatment plans should be tailored to individual needs. Consultation with a neurologist or a pediatrician specializing in epilepsy can help determine the best course of treatment.

References: [7] ACH Ng (2024) - Abstract: Patients with epileptic encephalopathy with spike wave activation in sleep (EE-SWAS) often display drug-resistant epilepsy.

Differential Diagnoses for Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathy (DEE) is a severe epilepsy syndrome characterized by both seizures and encephalopathy. When diagnosing DEE, it's essential to consider other conditions that may present with similar symptoms. Some of the differential diagnoses for DEE include:

• Early Myoclonic Encephalopathy: This condition is characterized by early onset myoclonic seizures, which can be difficult to distinguish from those seen in DEE.
• West Syndrome: Also known as infantile spasms, West syndrome is a severe epilepsy disorder that typically presents in the first year of life. It's essential to differentiate it from DEE, as both conditions can present with similar symptoms such as developmental regression and seizures.
• Other Early-Onset Epileptic Encephalopathies: These include conditions like Lennox-Gastaut Syndrome (LGS) and other severe epilepsy syndromes that can present in early childhood.

These differential diagnoses are crucial to consider when evaluating patients for DEE, as they may require different treatment approaches and have distinct prognostic implications. [7][8]

References:

• [7] - Context result 7
• [8] - Context result 8