Generalized epilepsy-paroxysmal dyskinesia syndrome(PNKD3)

MedGen UID:: 1801137
•Concept ID:: C5574945
•: Disease or Syndrome

Synonyms:	Generalized epilepsy and paroxysmal dyskinesia; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; PNKD3
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	KCNMA1 (10q22.3)

Monarch Initiative:	MONDO:0012276
OMIM®:	609446
Orphanet:	ORPHA79137

Definition

Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the <i>KCNMA1</i> gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant. [from ORDO]

Clinical features

From HPO

Dyskinesia

MedGen UID:: 8514
•Concept ID:: C0013384
•: Disease or Syndrome

A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.

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Bilateral tonic-clonic seizure

MedGen UID:: 141670
•Concept ID:: C0494475
•: Sign or Symptom

A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.

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Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

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Paroxysmal dyskinesia

MedGen UID:: 156242
•Concept ID:: C0752210
•: Disease or Syndrome

Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.

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EEG with spike-wave complexes (>3.5 Hz)

MedGen UID:: 892339
•Concept ID:: C4023684
•: Finding

The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).

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Generalized non-motor (absence) seizure

MedGen UID:: 1385688
•Concept ID:: C4316903
•: Disease or Syndrome

A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.

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Generalized hypotonia