developmental and epileptic encephalopathy 31A

Developmental and Epileptic Encephalopathy 31A (DEE31A)

DEE31A is a rare autosomal dominant neurologic disorder characterized by global developmental delay, intellectual disability, and severe epilepsy. The condition typically manifests in the first months or years of life.

Key Features:

• Global Developmental Delay: Children with DEE31A experience significant delays in cognitive, motor, and language development.
• Intellectual Disability: Patients often have profound intellectual disability, which can range from mild to severe.
• Severe Epilepsy: Refractory seizures are a hallmark of DEE31A, and they can be challenging to control with medication.
• Hypotonia: Some individuals may exhibit hypotonia (low muscle tone), which can lead to difficulties with walking or ataxic gait.

Additional Information:

• DEE31A is caused by a heterozygous mutation in the DNM1 gene, making it an autosomal dominant disorder.
• The condition is characterized by its early onset and severe symptoms, which can significantly impact daily life and require ongoing medical attention.

Sources:

• [1] Developmental and epileptic encephalopathy-31A (DEE31A) is an autosomal dominant neurologic disorder characterized by the global developmental delay ... (Source: 1)
• Patients exhibit hypotonia, profound intellectual disability, absent speech, and an inability to walk or ataxic gait. Some may have dysmorphic features or ... (Source: 3)
• DEE31A is caused by a heterozygous mutation in the DNM1 gene. Heritability. Autosomal dominant ... (Source: 5)

Common Signs and Symptoms

Developmental and Epileptic Encephalopathy 31A (DEE31A) is characterized by a range of manifestations, including:

• Seizures: People with this condition often experience various types of refractory seizures in the first months or years of life, which can exacerbate psychomotor deficits [3].
• Autism: DEE31A individuals may exhibit symptoms of autism, such as difficulties with social interactions and communication [3].
• Developmental Delay: Global developmental delay is a hallmark feature of this condition, affecting cognitive, motor, and language skills [4].
• Hypotonia: Poor muscle tone (hypotonia) is a common symptom, which can manifest as generalized hypotonia or poor suckling reflexes in neonates [5].
• Intellectual Disability: Severe intellectual disability is often observed, accompanied by difficulties with language and communication skills [6].
• Difficulty Walking: Individuals with DEE31A may experience challenges with walking and motor coordination [6].

Additional Symptoms

Other signs and symptoms associated with DEE31A include:

• Hypsarrhythmia: An irregular pattern seen on EEG (electroencephalogram) readings [9]
• Dyskinesia: Abnormal movements or muscle contractions [9]

These symptoms can vary in severity and presentation, but they are commonly observed in individuals with Developmental and Epileptic Encephalopathy 31A.

Diagnostic Tests for Developmental and Epileptic Encephalopathy 31A

Developmental and epileptic encephalopathy 31A (DEE 31A) is a rare neurodevelopmental disorder, and accurate diagnosis is crucial for effective management. Diagnostic tests play a vital role in identifying the underlying genetic causes of DEE 31A.

Clinical Investigations

According to [3], diagnostic accuracy for DEEs, including DEE 31A, is generally achieved through a combination of clinical investigations. These may include:

• Review of medical history
• Physical examination
• Neuroimaging (e.g., magnetic resonance imaging (MRI))
• Electroencephalogram (EEG)
• Genetic testing

Genetic Testing

Genetic testing is a valuable tool in the differential diagnosis of hereditary epileptic encephalopathies, including DEE 31A [4]. Prenatal diagnosis is also possible through genetic testing. Targeted NGS gene panel testing has proven to be an efficient diagnostic tool in detecting the genetic basis of DEE in a large proportion of cases [6].

Associated Genes and Mutations

DEE 31A is associated with mutations in the DNM1 gene [1]. Genetic testing can identify these mutations, providing valuable information for diagnosis and management.

Diagnostic Yield

The diagnostic yield of clinical genetic testing in DEE varies with the population being tested. However, targeted NGS gene panel testing has been shown to be effective in detecting the genetic basis of DEE in a large proportion of cases [6].

In conclusion, accurate diagnosis of developmental and epileptic encephalopathy 31A requires a combination of clinical investigations and genetic testing. Targeted NGS gene panel testing is a valuable tool in identifying the underlying genetic causes of DEE 31A.

References:

[1] Clinical resource with information about Developmental and epileptic encephalopathy 31A and its clinical features, DNM1, available genetic tests from US and ...

[3] by YT Chang · 2023 · Cited by 12 — Diagnostic accuracy is crucial for the effective management of DEEs and is generally achieved through a combination of clinical investigations.

[4] Nov 13, 2023 — Genetic testing is very useful in the differential diagnosis of hereditary epileptic encephalopathies. Prenatal diagnosis is possible in ...

[6] 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.

Treatment Options for Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathy (DEE) is a rare and severe form of epilepsy that requires specialized treatment. While there are no specific treatments that can cure DEE, various medications and therapies can help manage the condition.

• Antiepileptic drugs: These are the primary treatment for DEE, and they can be effective in controlling seizures in some cases [1]. However, due to the drug-resistant nature of DEE, these medications may not always be sufficient.
• Hormonal treatment: Hormonal therapies have been shown to improve seizure control and developmental outcomes in some patients with DEE [3].
• Intravenous immunoglobulin (IVIG): IVIG has been used as a treatment for DEE, particularly in cases where seizures are resistant to antiepileptic drugs [4].

New Treatment Options

Recent studies have identified potential new treatments for DEE. For example:

• CAP-002: This is an orphan drug that has received FDA approval for the treatment of DEE caused by syntaxin-binding protein 1 (STXBP1) mutations [12].
• Other antiepileptic drugs: Research is ongoing to develop more effective antiepileptic medications specifically designed for DEE.

Important Considerations

When treating DEE, it's essential to consider the individual patient's needs and response to treatment. A multidisciplinary approach involving neurologists, psychologists, and other healthcare professionals can help ensure the best possible outcomes.

References:

[1] Developmental and Epileptic Encephalopathy (DEE) refers to a group of severe epilepsies that are characterized both by seizures, which are often drug-resistant, as well as encephalopathy, which is a term used to describe significant developmental delay or even loss of developmental skills. [13]

[3] Proper antiepileptic drug, hormonal treatment, or i.v. immunoglobulin choice play major role in prognosis. ... Epileptic encephalopathy is described as epilepsy with ictal and interictal epileptiform anomalies ... New antiepileptic drugs in pediatric epilepsy. Brain and Development. 2008;30(9):549–555. doi: 10.1016/j.braindev.2008.01.007. [15]

[4] Epileptic encephalopathy is described as epilepsy with ictal and interictal epileptiform anomalies ... New antiepileptic drugs in pediatric epilepsy. Brain and Development. 2008;30(9):549–555. doi: 10.1016/j.braindev.2008.01.007. [15]

[12] FDA grants orphan drug designation to potential treatment of STXBP1 developmental and epileptic encephalopathy (2024, November 15) retrieved 19 November 2024 from https://medicalxpress.com/news/2024-11-fda-grants-orphan-drug-designation-potential-treatment.html [14]

Differential Diagnoses for Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathy (DEE) is a heterogeneous group of disorders characterized by early-onset, often severe epileptic seizures and developmental impairment. The differential diagnoses for DEE include:

• Other Epileptic Encephalopathies: Such as early myoclonic encephalopathy and West syndrome [6]
• Dravet Syndrome (DS): A well-characterized DEE previously known as Severe Myoclonic Encephalopathy of Infancy (SMEI) [10]
• GRIN2D-related DEE: Established in a proband with suggestive findings and a heterozygous pathogenic mutation [4]
• STXBP1 Encephalopathy: Characterized by intellectual disability, recurrent seizures, and delayed motor and language development [7]

These differential diagnoses are important to consider when evaluating patients with developmental and epileptic encephalopathy. A comprehensive diagnostic approach is essential to determine the underlying cause of DEE.

References: [4] Platzer K (2022) - Cited by 8 [6] Search result 6 - Differential diagnosis [7] Search result 7 - STXBP1 encephalopathy [10] Steward CA (2019) - Cited by 34