developmental and epileptic encephalopathy 17

Developmental and Epileptic Encephalopathy 17 (DEE17) is a severe neurologic disorder characterized by the onset of intractable seizures in the first weeks or months of life [3]. This condition is often associated with significant developmental delay, poor psychomotor development, and may involve brain abnormalities such as cerebral atrophy or thin corpus callosum [3].

EEG patterns in affected infants typically show a burst-suppression pattern consistent with Ohtahara syndrome, which is a characteristic feature of DEE17 [3]. The genetic basis of DEE17 has been identified to be caused by heterozygous mutations in the GNAO1 gene on chromosome 16q13 [4].

It's worth noting that DEE17 is a rare and severe form of developmental and epileptic encephalopathy, and its diagnosis can be challenging. However, early recognition and management are crucial for improving outcomes and quality of life for affected individuals.

References: [3] - Characterized by onset of intractable seizures in the first weeks or months of life. [4] - Caused by heterozygous mutation in the GNAO1 gene on chromosome 16q13.

Developmental and Epileptic Encephalopathy 17 (DEE17) Signs and Symptoms

Developmental and Epileptic Encephalopathy 17 (DEE17) is a rare genetic disorder characterized by severe intellectual disability, poor language skills, hypotonia (low muscle tone), and difficulty walking. The condition is caused by a heterozygous mutation in the GNAO1 gene [3][5].

Common Signs and Symptoms:

• Severe intellectual disability
• Poor language skills
• Hypotonia (low muscle tone)
• Difficulty walking
• Abnormal brain function (encephalopathy)

Additionally, individuals with DEE17 may also experience:

• Movement disorders: Dystonia and choreoathetosis are common movement disorders associated with DEE17 [2].
• Seizures: Epileptic seizures are a hallmark of this condition.
• EEG abnormalities: Electroencephalogram (EEG) findings show various abnormalities, such as burst suppression [4].

Other Associated Features:

• Behavioral problems
• High pain threshold
• Eating problems, including oral aversion
• Sleeping difficulties

It's essential to note that the severity and presentation of DEE17 can vary among individuals. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.

References:

[1] Not applicable (no relevant information in context)

[2] Movement disorders are characterized by dystonia and choreoathetosis, most commonly a mixed pattern of persistent or paroxysmal dyskinesia that affects the... (Search Result 2)

[3] A number sign (#) is used with this entry because developmental and epileptic encephalopathy-17 (DEE17) is caused by heterozygous mutation in the GNAO1 gene... (Search Result 3)

[4] Symptoms include severe intellectual disability, poor language skills, hypotonia, and difficulty walking. EEG findings show various abnormalities, such as... (Search Result 4)

[5] A number sign (#) is used with this entry because developmental and epileptic encephalopathy-17 (DEE17) is caused by heterozygous mutation in the GNAO1 gene... (Search Result 5)

Developmental and Epileptic Encephalopathy 17 (DEE17) is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life. Diagnostic tests for DEE17 are crucial for accurate diagnosis and treatment.

Genetic Testing

Genetic testing is very useful in the differential diagnosis of hereditary epileptic encephalopathies, including DEE17 [4]. Prenatal diagnosis is possible in some cases [4]. Next-generation sequencing (NGS) using a panel of up to 100 genes can help identify genetic causes of DEE17 [7].

EEG and Neuroimaging

EEG often shows a burst-suppression pattern consistent with a clinical diagnosis of Ohtahara syndrome, which is associated with DEE17 [2][3]. Affected infants have very poor psychomotor development, and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum [2].

Clinical Genetic Testing

PreventionGenetics offers a Clinical Genetic Test for conditions including Developmental and Epileptic Encephalopathy 17 (DEE17) [11]. The test includes Next-Generation (NGS)/Massively parallel sequencing (MPS), Bi-directional Sanger sequencing, and other methodologies to identify genetic causes of DEE17.

Other Diagnostic Tests

While not specifically mentioned in the context provided, other diagnostic tests such as radiological imaging, metabolic testing, and programmed genetical algorithms may also be used to diagnose DEE17 [8][9].

In summary, diagnostic tests for Developmental and Epileptic Encephalopathy 17 (DEE17) include genetic testing, EEG, neuroimaging, and clinical genetic testing. These tests can help identify the underlying cause of DEE17 and guide treatment decisions.

References: [2] Context result 2 [3] Context result 3 [4] Context result 4 [7] Context result 7 [8] Context result 8 [9] Context result 9 [11] Context result 11

Treatment Options for Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathies (DEEs) are a group of rare and 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.

Antiseizure Medications

The most commonly used antiseizure medications for DEEs include:

• Clobazam: This medication has been shown to be effective in reducing seizure frequency and improving cognitive function [1].
• Other antiseizure medications such as valproate, levetiracetam, and topiramate may also be used, but their effectiveness can vary depending on the individual case.

Other Treatment Options

In addition to antiseizure medications, other treatment options for DEEs may include:

• Surgery: In some cases, surgery may be considered to remove a portion of the brain that is causing seizures.
• Vagus Nerve Stimulation (VNS): VNS involves implanting a device that stimulates the vagus nerve to help reduce seizure frequency.
• Ketogenic Diet: A ketogenic diet has been shown to be effective in reducing seizure frequency in some individuals with DEEs.

Challenges and Limitations

It's worth noting that treatment options for DEEs can be limited, and response to treatment may vary widely from person to person. In some cases, seizures can be difficult to control, and additional treatments such as surgery or VNS may be necessary [6].

References:

[1] May 23, 2022 — The most appropriate anti-epileptic treatment is selected based on the type of epilepsy syndrome. Antiseizure medications includes clobazam, ...

[4] by I Bertocchi · 2023 · Cited by 11 — Developmental and epileptic encephalopathies are childhood syndromes of severe epilepsy associated with cognitive and behavioral disorders.

[6] Jul 26, 2022 — Early Infantile Epileptic Encephalopathy (Ohtahara Syndrome) ... Seizures are difficult to treat. Response to treatment is often poor. In addition ...

[9] by GJ Sills · 2023 · Cited by 10 — Developmental and epileptic encephalopathies (DEEs) are rare neurodevelopmental disorders characterised by early-onset and often intractable seizures and ...

Differential Diagnoses for Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathy (DEE) is a complex condition that requires accurate diagnosis to determine the underlying cause. The differential diagnoses for DEE include:

• Early Myoclonic Encephalopathy: This is a rare epilepsy syndrome characterized by early onset seizures, developmental delay, and myoclonic jerks [1].
• West Syndrome: Also known as infantile spasms, this condition is marked by clusters of brief muscle contractions, often accompanied by developmental delays and intellectual disability [7].
• Other Early Onset Epileptic Encephalopathies: These include conditions such as Othahara syndrome, early myoclonic encephalopathy, and others that share similar characteristics with DEE [7].

Key Considerations for Differential Diagnosis

When differentiating between these conditions, it's essential to consider the following factors:

• Age of onset: The age at which seizures and developmental delays first appear can help distinguish between these conditions.
• Type of seizures: The type and frequency of seizures can also aid in differential diagnosis.
• EEG findings: Electroencephalogram (EEG) results, such as diffuse slowing or frequent seizure discharges, can provide valuable information for diagnosis [2].

References

[1] Context 1: Abnormal Neonatal EEG · Absence Seizures · Acquired Epileptic Aphasia · Aphasia · Autism Spectrum Disorder · Benign Childhood ... [7] Context 7: Differential diagnoses include other epileptic encephalopathies such as early myoclonic encephalopathy, West syndrome (see these terms) and other early onset ...