Ataxia - paediatric

Gene: PRRT2

Green List (high evidence)

A large series of 40 patients from 36 families reported in PMID 33126500. All patients had benign infantile epilepsy and harbored pathogenic variants in PRRT2 (core cohort). Clinical data of 62 family members were included, comprising a cohort of 102 individuals (extended cohort) with PRRT2-associated neurological disease. Additional phenotypes in the cohort of patients with benign sporadic and familial infantile epilepsy consist of movement disorders with paroxysmal kinesigenic dyskinesia in six patients, infantile-onset movement disorders in 2 of 40 individuals, and episodic ataxia after mild head trauma in one girl with bi-allelic variants in PRRT2. The same girl displayed a focal cortical dysplasia upon brain imaging. Familial hemiplegic migraine and migraine with aura were reported in nine families. A single individual developed epilepsy with continuous spikes and waves during sleep. PRRT2 is a transmembrane protein involved in synaptic transmission, unclear if it is a channel, included in this panel due to phenotypic overlap.

Created: 29 Dec 2020, 10:04 p.m. | Last Modified: 29 Dec 2020, 10:04 p.m.

Panel Version: 0.5869

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751

Publications

• 33126500

Green List (high evidence)

Ataxia can be a prominent feature of the condition, particularly in biallelic cases. Onset of ataxia is variable, from paediatric to adult.
Sources: Expert list

Created: 17 Apr 2020, 1:18 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Episodic kinesigenic dyskinesia 1 MIM#128200; Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066; Seizures, benign familial infantile, 2 MIM#605751

Publications

• 26598494
• 31193310
• 30501978
• 30713971