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Abstract Details

Hypokalemic Periodic Paralysis: Clinical and Genetic Spectrum of a Pediatric Cohort
Neuromuscular and Clinical Neurophysiology (EMG)
P11 - Poster Session 11 (8:00 AM-9:00 AM)
1-006
To provide a comprehensive report of the clinical and genetic characteristics of patients with hypokalemic periodic paralysis followed in the pediatric neuromuscular center at the Children’s Medical Center of Dallas (CMC).
Hypokalemic periodic paralysis (HypoPP) is a rare, autosomal dominant disorder caused by mutations in the genes encoding for calcium gated voltage channels or sodium channels. Four CACNA1S gene mutations in exons 11 and 30 and three SCN4A gene mutations in exon 12 account for approximately 80% cases. A fifth, de novo, mutation in the CACNA1S gene in exon 21 has been previously identified in two patients with younger onset and more severe clinical presentations. One of these patients is followed at CMC. To date there have been no updates on the clinical progression and response to treatment of these patients compared to patients who carry the more common mutations. 

Retrospective chart review of patients with confirmed diagnosis of hypokalemic periodic paralysis followed at (CMC).

Four patients with hypoPP were identified. One patient had a CACNA1S mutation in exon 11, and two patients had a CACNA1S mutation in exon 30. Clinical characteristics of these patients were typical of hypoPP. Age of symptom onset ranged between 10 and 15 years old. These patients had a strong family history of periodic paralysis, normal strength on exam, few to no admissions/ED visits, and variable response to treatment. One patient had a de novo CACNA1S mutation in exon 21. Age of onset was 1 year old. This patient had progressive weakness, contractures, recurrent admissions/ED visits, and lower response to treatment.

Our review demonstrates typical characteristics of patients with the more common CACNA1S mutations. One of the patients with a de novo mutation in exon 21 has had a slow but progressive course with more complications and hospitalizations.

Authors/Disclosures
Alicia Henriquez, MD (Seattle Children's Hospital)
PRESENTER 		Dr. Henriquez has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Italfarmaco. Dr. Henriquez has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Scholar Rock. Dr. Henriquez has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Henriquez has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catalyst. Dr. Henriquez has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Henriquez has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Biogen.
Alicia Henriquez, MD (Seattle Children's Hospital) Dr. Henriquez has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Italfarmaco. Dr. Henriquez has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Scholar Rock. Dr. Henriquez has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Henriquez has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catalyst. Dr. Henriquez has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Henriquez has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Biogen.