Question: how is epilepsy diagnosed

Reference:
 Autosomal dominant nocturnal frontal lobe epilepsy ADNFLE Epilepsy, nocturnal frontal lobe, 1 ENFL1 Summary Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. People with ADNFLE have seizures that usually occur at night during sleep. Some people with ADNFLE also have seizures during the day. These seizures can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep, to dramatic muscle spasms and movements. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age. [1] [2] It is diagnosed based on symptoms and the results of tests such as an EEG . ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes . In most cases however, the genetic cause is not found. Seizures can usually be controlled with anti-seizure medications. [2] Symptoms The main symptom in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is seizures that generally occur at night. Seizures may begin anywhere from early childhood to adulthood, but most often begin in childhood. [3] [4] Seizures may last from a few seconds to a few minutes. [1] The frequency of seizures varies from several per year to several per night. [3] Seizures may become less frequent or more mild as a person gets older. [1] Some people with ADNFLE occasionally have seizures while they are awake. [4] When a person with ADNFLE is having a seizure, they may experience a variety of movement-related symptoms ranging from mild to severe. Examples include: [1] [3] [4] Short bursts of random, repetitive movements of the limbs, trunk, or head, lasting 2 to 4 seconds. Brief, sudden arousal (waking), sometimes with repetitive movements, making sounds, crying, or feelings of fear. Major attacks lasting 20 to 30 seconds, characterized by extreme stiffening of muscles, or movements such as pelvic thrusting, pedaling, twisting and writhing, or fast, forceful motions of the limbs. Recurring episodes of exertion during the night may lead to sleepiness during the day. [4] Most people with ADNFLE have normal intellect (thinking abilities), but in some cases, intellect is reduced. Some people with ADNFLE also have psychiatric disorders or behavior problems, but it is unclear if these are directly related to ADNFLE. [1] [3] This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID 5%-29% of people have these symptoms Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation 0001249 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Childhood onset Symptoms begin in childhood 0011463 Focal-onset seizure 0007359 Incomplete penetrance 0003829 Showing of Diagnosis A diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made based on signs and symptoms. In addition to the doctor taking a detailed medical and family history from the person with symptoms, obtaining information from others who see episodes occur is very helpful. In some cases, video- EEG monitoring during sleep is needed. The features that suggest a diagnosis of ADNFLE include: Clusters of seizures that occur mainly during sleep. A normal neurologic exam and normal findings on brain imaging tests. A normal EEG recorded during a seizure (ictal EEG), or one that is obscured by movement of the cables or electrodes. An EEG recorded between seizures (interictal EEG) that shows few or no instances of patterns seen in people with epilepsy. The presence of the same disorder in other family members, with evidence of autosomal dominant If ADNFLE is suspected, genetic testing may be ordered. However, genetic testing can confirm the diagnosis in only 20% of people with a family history of ADNFLE, and in fewer than 5% of people with no family history. [2] Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. Related Diseases Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Conditions with similar signs and symptoms from Orphanet Differential diagnoses include sporadic NFLE, paroxysmal dyskinesia, familial focal epilepsy with variable foci (see these terms), restless legs syndrome, periodic limb movement disorders (PLMS), REM sleep behavior disorders (RBD), nocturnal panic attacks, non-REM parasomnias, obstructive sleep apnea syndrome, and arousal disorders. Visit the Orphanet disease page for more information. 

Answer: People who are concerned they may be having seizures or other neurological signs or symptoms should be evaluated by a neurologist. The diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made on clinical grounds. The key to diagnosis is a detailed history from the affected person, as well as witnesses. Sometimes video- EEG monitoring is necessary.