SYN1 Gene Mutation in a Child with Focal Epilepsy and Reflex Bathing Seizures
نویسندگان
چکیده
منابع مشابه
A Rare Reflex Epilepsy: Bathing-Related Epilepsy.
Bathing-related epilepsy (BRE), which is also known as water immersion epilepsy, is a rare, benign, reflex epilepsy. It presents with focal seizures that occur during bathing with hot water and has a favorable prognosis (1). The exact mechanism underlying these seizures is unknown (1). This epilepsy is frequently confused with hot water epilepsy (HWE) and is generally seen during childhood and ...
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Suvasini Sharma, DM* Naveen Sankhyan, DM* Konanki Ramesh, MD Sheffali Gulati, MD Epilepsy of infancy with migrating focal seizures is a rare, infantile epileptic encephalopathy characterized by normal early development, refractory focal seizures arising independently from both hemispheres, and severe psychomotor retardation. In the revised terminology by the International League Against Epileps...
متن کاملChild neurology: epilepsy of infancy with migrating focal seizures.
Suvasini Sharma, DM* Naveen Sankhyan, DM* Konanki Ramesh, MD Sheffali Gulati, MD Epilepsy of infancy with migrating focal seizures is a rare, infantile epileptic encephalopathy characterized by normal early development, refractory focal seizures arising independently from both hemispheres, and severe psychomotor retardation. In the revised terminology by the International League Against Epileps...
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Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features. By contras...
متن کاملA case of symptomatic reflex epilepsy precipitated by bathing
By definition, reflex seizures are epileptic events triggered by specific motor, sensory, or cognitive stimulation. Reflex epilepsy is a term reserved for the scenarios in which seizures are exclusively triggered by a specific stimulus like reading or eating [1]. Focal seizures precipitated by somatosensory stimuli often originate in the parietal lobe (somatosensory area II) and present with se...
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ژورنال
عنوان ژورنال: Journal of Pediatric Epilepsy
سال: 2017
ISSN: 2146-457X,2146-4588
DOI: 10.1055/s-0037-1599193