fa O22: Approach to Syndromic Epilepsy تحقیقات پایه در علوم اعصاب Basic research in Neuroscience مروری Review --- Open Access, CC-BY-NC <div style="text-align: center;"><span style="color: rgb(0, 0, 0); font-family: Tahoma; font-size: 12px; text-align: center; background-color: rgb(251, 250, 249);">لطفاً به چکیده انگلیسی مراجعه شود.</span></div> Epilepsy can be observed during the course of many inborn errors of metabolism (IEMs) usually as part of a large clinical spectrum. However, several IEMs may manifest with inaugural epileptic seizures. Inborn errors of metabolism (IEMs) represent poorly known causes of epilepsy in adulthood. Although rare, these are important to recognize for several reasons:<span dir="RTL"></span><br> 1- some IEMs respond to specific treatments<br> 2- some antiepileptic drugs interfering with metabolic pathways may worsen the clinical condition<br> 3- and specific genetic counselling can be provided.<br> <strong>When should one suspect an IEM in an epileptic patient?</strong><br> In a patient with epilepsy, it should be stressed that several clinical, radiological or electrophysiological features suggest an IEM:<span dir="RTL"></span><br> 1-The epileptic syndrome does not match with any classical epilepsy syndrome i.e. atypical electro-clinical presentation, atypical response to antiepileptic drugs or mixture of generalized and partial epileptic manifestations (for example association of myoclonus and partial seizures in a given patient;<br> 2-Progressive myoclonic epilepsy<span dir="RTL">;</span><br> 3- Association with other neurological impairments (cerebellar, pyramidal, etc.) or with unexplained mental retardation, or other organ disorders (eyes, muscles spleen, etc)<span dir="RTL">;</span><br> 4-Familial history suggestive of a genetic disease<span dir="RTL">; </span><br> 5-Seizures related to the times of eating, fasting, protein-rich meal<span dir="RTL">;</span><br> 6-Inefficacy or worsening with classical antiepileptic drugs;<br> 7-Unexplained status epilepticus<span dir="RTL">;</span><br> 8-Abnormalities on proton magnetic resonance spectroscopy: for instance, creatine deficiency or increased in lactate<span dir="RTL">;</span><br> 9-EEG showing slowing of the background activity or photo-paroxysmal responses during the photic intermittent stimulation at low frequencies (1&ndash;6 H).<span dir="RTL"></span><br> To recognize the type of IEM, clinical history needs to be analyzed considering the following&nbsp;&nbsp;&nbsp; points;<br> (a) Age at onset<br> (b) clinical presentations <span dir="RTL"></span><br> (c) Pattern of inheritance<span dir="RTL"></span><br> (d) Key clinical symptoms and signs with special focus on sites of neuraxis and extra-neural involvement <span dir="RTL"></span><br> (e) Course of the disease and<span dir="RTL"></span><br> (f) Severity of impairment. Epilepsy, Impairment, Patient, Metabolic 22 22 http://shefayekhatam.ir/browse.php?a_code=A-10-24-1327&slc_lang=fa&sid=1 Bita Shalbafan Bita Shalbafan Shalbafan.b@gmail.com 100319475328460016815 100319475328460016815 Yes Iran Social Security Organization, Labafinejad Hospital, Tehran, Iran Iran Social Security Organization, Labafinejad Hospital, Tehran, Iran