engleski

Identification of a novel CACNA1A variant in a patient with myoclonic epilepsy

The CACNA1A gene encodes the voltage-gated P/Q- type calcium channel that mediates neurotransmitter release by promoting the flow of calcium ions to stimulate the presynaptic membrane. Progressive myoclonic epilepsy (PME) represents distinct clinical entities characterized by substantial clinical and genetic variability. We report a 32-year-old patient with the myoclonic epilepsy, mild cognitive deterioration, nystagmus, intention and postural tremor, and gait disturbance. Due to neurological findings, we evaluated the patient as possible PME. During controls at our Referral Centre for Epilepsy, patient didn’t show progression in neurological decline as would be expected in patients with PME, so we performed targeted next generation sequencing of 142 epilepsy genes. Sequencing revealed novel missense CACNA1A variant. Several neurological disorders are caused by pathogenic variants in CACNA1A including the familial hemiplegic migraine, spinocerebellar ataxia type 6, and episodic ataxia type 2. Patients with epilepsy due to pathogenic variants in CACNA1A have been previously described in literature. Epilepsy types were referred as generalized seizure (absence), while in some cases they were described as generalized, but it was not clearly defined whether they were myoclonic seizures. We believe that the clinical presentation of our patient may be related to the known clinical presentation of CACNA1A pathogenic variants, but at this point we cannot fully implement the patient`s symptoms into one of the three most reported CACNA1A related disorders or consider him as PME.

myoclonic epilepsy, CACNA1A

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