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disease: Epilepsy, nocturnal frontal lobe, type 3

id1173
nameEpilepsy, nocturnal frontal lobe, type 3
descriptionAutosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent.
variant-disease NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu) AND Epilepsy, nocturnal frontal lobe, type 3
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) AND Epilepsy, nocturnal frontal lobe, type 3
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) AND Epilepsy, nocturnal frontal lobe, type 3
NM_000748.3(CHRNB2):c.936C>G (p.Ile312Met) AND Epilepsy, nocturnal frontal lobe, type 3
NM_000748.3(CHRNB2):c.1338+3G>T AND Epilepsy, nocturnal frontal lobe, type 3
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