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Generalized epilepsy-paroxysmal dyskinesia syndrome(PNKD3)

MedGen UID:
Concept ID:
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:
Concept ID:
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.
Gene (location): KCNMA1 (10q22.3)
Monarch Initiative: MONDO:0012276
OMIM®: 609446
Orphanet: ORPHA79137


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
MedGen UID:
Concept ID:
Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Bilateral tonic-clonic seizure
MedGen UID:
Concept ID:
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.
Global developmental delay
MedGen UID:
Concept ID:
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.
Paroxysmal dyskinesia
MedGen UID:
Concept ID:
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.
EEG with spike-wave complexes (>3.5 Hz)
MedGen UID:
Concept ID:
The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).
Generalized non-motor (absence) seizure
MedGen UID:
Concept ID:
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.
Generalized hypotonia
MedGen UID:
Concept ID:
Generalized muscular hypotonia (abnormally low muscle tone).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized epilepsy-paroxysmal dyskinesia syndrome

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