" /> Epilepsy, nocturnal frontal lobe, 1 - CISMeF





Preferred Label : Epilepsy, nocturnal frontal lobe, 1;

Symbol : ENFL1;

CISMeF acronym : ENFL1;

Type : Phenotype, molecular basis known;

Description : Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life (Scheffer et al., 1994, 1995). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families (Hayman et al., 1997). - Genetic Heterogeneity of Nocturnal Frontal Lobe Epilepsy Nocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 (603204), which maps to chromosome 15q24;;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neuronal nicotinic cholinergic receptor, alpha polypeptide 4 gene (CHRNA4, 118504.0002);

Prefixed ID : #600513;

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30/07/2025


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