obsolete congenital epilepsy

Obsolete Congenital Epilepsy: A Rare Form of Neonatal Seizures

Obsolete congenital epilepsy, also known as Early Infantile DEE (EIDEE), is a rare and severe form of neonatal epilepsy that affects approximately 10 in 100,000 live births [5]. This condition was previously known as Ohtahara syndrome.

Characteristics and Symptoms

EIDEE is characterized by the onset of intractable seizures within the first few months of life, often accompanied by developmental delays and intellectual disability. The seizures can be generalized or focal, and may be triggered by fever [6].

Causes and Genetics

The exact cause of EIDEE is unknown, but it is believed to be a genetic disorder that affects the development of the brain's electrical activity. Research suggests that mutations in the SCN1A gene may contribute to the development of this condition [1][2].

Diagnosis and Treatment

Diagnosing EIDEE can be challenging, as the symptoms may resemble those of other neonatal seizure disorders. However, a precise diagnosis is essential for providing appropriate treatment and management.

Treatment options for EIDEE are limited, and often involve a combination of anticonvulsant medications and supportive care to manage seizures and associated complications [9].

References

[1] SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end, to severe forms like EIDEE. [Context 1]

[2] Early Infantile DEE is a rare form of neonatal epilepsy occurring in 10 in 100,000 live births. EIDEE was previously known as Ohtahara syndrome. [Context 5]

[3] A genetic etiology may be suspected based on a family history of epilepsy, however, de novo mutations are also possible. [Context 12]

[4] The definition of epilepsy requires the occurrence of at least one unprovoked seizure and either two or more unprovoked seizures occurring over time, or one unprovoked seizure plus any one of the following: a) at least 2 years of recurrence-free status after the initial seizure; b) evidence on electroencephalogram (EEG) of a focal lesion in the brain. [Context 14]

Based on the provided context, it appears that there are various types of epilepsy syndromes that can affect infants and children. Here are some signs and symptoms associated with obsolete congenital epilepsy:

• Frequent and drug-resistant seizures: Children with EIDEE may experience frequent and drug-resistant seizures in the first 3 months of life [1].
• Abnormal neurological examination: They may also have an abnormal neurological examination, which can indicate a underlying condition that requires medical attention.
• Simple focal seizures: Simple focal seizures manifest with subjective symptoms such as illusions, hallucinations or both (also called auras), lasting from a few seconds to 1-2 minutes [2].
• Mild seizures: Children with this condition may experience mild seizures that cause twitching, tingling, or numbness of the face and tongue [7].

It's essential to note that epilepsy syndromes are characterized by a unique combination of symptoms or by the location (lobe) in the brain. These conditions can be congenital (present at birth) or appear during childhood.

In terms of obsolete congenital epilepsy, it's worth mentioning that:

• Epileptic spasms: IESS is characterized by the onset of epileptic spasms between 1 and 24 months of age [9].
• Developmental delays: Epilepsy syndromes can also affect infants and children, leading to developmental delays or other symptoms such as seizures and abnormal neurological examination.

Please keep in mind that these are general signs and symptoms associated with obsolete congenital epilepsy. If you have any specific questions or concerns about a particular condition, it's always best to consult with a medical professional for personalized advice.

References:

[1] Context result 1 [2] Context result 2 [7] Context result 7 [9] Context result 9

Based on the provided context, it appears that there are various diagnostic tests used to determine the cause of congenital epilepsy. Here are some relevant findings:

• Magnetic Resonance Imaging (MRI): A brain MRI is recommended to be obtained to look for structural defects [3].
• Metabolic Profile: A metabolic profile including blood ammonia, arterial blood gas, and other tests should be conducted to rule out metabolic disorders [3].
• Electroencephalogram (EEG): EEG studies are essential in diagnosing genetic epilepsy, especially in cases where the etiology is unknown [6, 10].
• Chromosomal Microarray (CMA) testing: CMA testing should be considered early in the diagnostic process for individuals with early-onset epilepsy and dysmorphic features or congenital anomalies [12].

However, it's essential to note that some of these tests may not be relevant or necessary for all cases of congenital epilepsy. For instance:

• Genetic testing: While genetic testing is considered standard-of-care in individuals with unexplained epilepsy [15], the specific tests used (e.g., exome sequencing, genome sequencing) and their diagnostic yield vary depending on the individual case.

In terms of obsolete diagnostic tests for congenital epilepsy, it's worth noting that:

• Older imaging techniques: Older imaging techniques like computed tomography (CT) scans may not be as sensitive or specific as modern MRI technology in detecting structural defects [3].
• Outdated genetic testing methods: Outdated genetic testing methods, such as single-gene sequencing, may have lower diagnostic yields compared to newer technologies like next-generation sequencing (NGS) [8].

In summary, while there are various diagnostic tests used for congenital epilepsy, some of these tests may be more relevant or necessary than others depending on the individual case. It's essential to consider the most up-to-date and effective diagnostic approaches, such as MRI, EEG, CMA testing, and NGS, when evaluating patients with congenital epilepsy.

References:

[3] P Jain · 2013 · Cited by 45 — A magnetic resonance imaging of the brain must be obtained to look for structural defects. A metabolic profile including blood ammonia, arterial blood gas, ...

[6] by JJ Riviello Jr · 2006 · Cited by 275 — EEG has been recommended as routine in a Practice Parameter on the evaluation of the first nonfebrile seizure in children; SE was specifically ...

[8] by I Krey · 2022 · Cited by 71 — NGS modalities include exome sequencing (ES) and genome sequencing (GS), as well as epilepsy-focused gene panels.

[10] Genetic evaluations in epilepsy include a review of a patient’s history and medical records, and documentation of at least a three-generation pedigree. Implementation of epilepsy protocol-based MRI of the brain and a sleep EEG are also considered essential for such evaluations.

[12] CMA testing should still be considered early in the diagnostic process for individuals with early-onset epilepsy and dysmorphic features or congenital anomalies; individuals with GGE and intellectual disability or other neurodevelopmental abnormalities; and individuals with severe early-onset epilepsy for which NGS does not identify a causative ...

Based on the provided context, it appears that there are limited options for treating obsolete congenital epilepsy through drug treatment.

• The use of phenobarbitone, primidone, and phenytoin was found to cause a reduction in serum, red cell, and cerebrospinal fluid folate levels in a high proportion of patients with epilepsy (13).
• Folic acid treatment for 1–3 years improved the mental state of these patients, but this is not a specific treatment for obsolete congenital epilepsy (13).

It's worth noting that the context mentions the use of VPA (valproic acid) as an effective treatment for idiopathic generalized epilepsies, including generalized seizures (14). However, there is no mention of its effectiveness in treating obsolete congenital epilepsy specifically.

In terms of current drug treatments, the context does not provide any specific information on the most effective or commonly used medications for obsolete congenital epilepsy. It's possible that more modern treatments have been developed since the time period referenced in the context (1960s and 1970s).

If you're looking for up-to-date information on treating obsolete congenital epilepsy through drug treatment, I would recommend consulting a medical professional or searching for more recent studies on the topic.

References:

• [13]
• [14]

Understanding Differential Diagnosis in Congenital Epilepsy

The differential diagnosis of epilepsy, particularly in infants and young children, can be a complex process. In some cases, the earliest form of idiopathic generalized epilepsy may be misdiagnosed or confused with other conditions.

• Idiopathic Generalized Epilepsy: This is an early form of epilepsy that affects approximately 10-12% of infants who develop later epilepsy in adolescence or early adulthood [3].
• Diagnostic Delay: A wrong diagnosis of epilepsy can lead to a significant delay in proper treatment, resulting in a diagnostic delay of about 7 to 10 years [2].

Red Flags for Misdiagnosis

Several "red flags" can raise suspicion of psychogenic non-epileptic attacks (PNE