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1.

Epilepsy, lateral temporal lobe, autosomal dominant

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an idiopathic focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal manifestations. The most common auditory symptoms are simple unformed sounds including humming, buzzing, or ringing; less common forms are distortions (e.g., volume changes) or complex sounds (e.g., specific songs or voices). Ictal receptive aphasia consists of a sudden onset of inability to understand language in the absence of general confusion. Less commonly, other ictal symptoms may occur, including sensory symptoms (visual, olfactory, vertiginous, or cephalic), or motor, psychic, and autonomic symptoms. Most affected individuals have secondarily generalized seizures, usually accompanied by simple partial and complex partial seizures, with auditory symptoms as a major simple partial seizure manifestation. Some persons have seizures precipitated by sounds such as a ringing telephone. Age at onset ranges from four to 50 years but is usually in adolescence or early adulthood. The clinical course of ADPEAF is benign. Seizures are usually well controlled after initiation of medical therapy. [from GeneReviews]

MedGen UID:
325326
Concept ID:
C1838062
Disease or Syndrome
2.

Episodic ataxia type 1

Episodic ataxia type 1 (EA1) is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks individuals may experience a number of variable symptoms including vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing, among others. EA1 may be associated with epilepsy. Other findings can include delayed motor development, cognitive disability, choreoathetosis, and carpal spasm. Usually, onset is in childhood or early adolescence. [from GeneReviews]

MedGen UID:
318554
Concept ID:
C1719788
Disease or Syndrome

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