Familial hemiplegic migraine due to CACNA1A and PNKD mutations in epilepsy with forced normalization: A case report
Abstract
Rationale: Hemiplegic migraine (HM) is a rare subtype of migraine characterized by complex aura and transient hemiparesis. It is infrequently associated with refractory focal epilepsy, and there are no previous reports of forced normalization (FN) in this context. This case highlights a novel clinical association and the diagnostic and therapeutic challenges it presents. Patient concerns: A 31-year-old right-handed woman presented with episodes of cognitive impairment following seizure control, as well as recurrent episodes of HM and prolonged focal seizures. She had a history of familial HM associated with CACNA1A and PNKD mutations. Diagnoses: Genetic testing confirmed the presence of CACNA1A and PNKD mutations, consistent with familial HM. The patient was also diagnosed with focal refractory epilepsy and exhibited clinical and electroencephalographic features suggestive of FN. Interventions: The patient received various antiseizure medications, with adjustment of dosages and regimens in response to status epilepticus and evolving cognitive symptoms. Treatment was tailored to balance seizure control while minimizing adverse neuropsychiatric effects. Outcomes: Seizure control was partially achieved with adjustment of antiseizure medications; however, episodes of cognitive dysfunction persisted during electroencephalogram normalization periods, consistent with FN. Functional status improved gradually with individualized treatment, but neurological deficits and migraine…
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Calcium Ions in the Physiology and Pathology of the Central Nervous System
- AI-powered in silico twins: redefining precision medicine through simulation, personalization, and predictive healthcare
- In silico functional, structural and pathogenicity analysis of missense single nucleotide polymorphisms in human MCM6 gene
- In Silico drug repurposing pipeline using deep learning and structure based approaches in epilepsy
- Targeting serotonin receptors with phytochemicals – an in-silico study
- In silico exploration of anti-prostate cancer compounds from differential expressed genes
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.