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Epilepsy in KCNH1-related syndromes.

Publication ,  Journal Article
Mastrangelo, M; Scheffer, IE; Bramswig, NC; Nair, LDV; Myers, CT; Dentici, ML; Korenke, GC; Schoch, K; Campeau, PM; White, SM; Shashi, V ...
Published in: Epileptic Disord
June 1, 2016

KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb and skeletal anomalies, intellectual disability, and seizures. We report the epilepsy phenotype in patients with KCNH1 mutations. Demographic data, electroclinical features, response to antiepileptic drugs, and results of significant diagnostic investigations of nine patients carrying mutations in KCNH1 were obtained from referring centres. Epilepsy was present in 7/9 patients. Both generalized and focal tonic-clonic seizures were observed. Complete seizure control was achieved with pharmacological treatment in 2/7 patients; polytherapy was required in 4/7 patients. Status epilepticus occurred in 4/7 patients. EEG showed a diffusely slow background in 7/7 patients with epilepsy, with variable epileptiform abnormalities. Cerebral folate deficiency and an increase in urinary hypoxanthine and uridine were observed in one patient. Epilepsy is a key phenotypic feature in most individuals with KCNH1-related syndromes, suggesting a direct role of KCNH1 in epileptogenesis, although the underlying mechanism is not understood.

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Published In

Epileptic Disord

DOI

EISSN

1950-6945

Publication Date

June 1, 2016

Volume

18

Issue

2

Start / End Page

123 / 136

Location

United States

Related Subject Headings

  • Young Adult
  • Thumb
  • Syndrome
  • Neurology & Neurosurgery
  • Nails, Malformed
  • Male
  • Intellectual Disability
  • Infant
  • Humans
  • Hand Deformities, Congenital
 

Citation

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Mastrangelo, M., Scheffer, I. E., Bramswig, N. C., Nair, L. D. V., Myers, C. T., Dentici, M. L., … Leuzzi, V. (2016). Epilepsy in KCNH1-related syndromes. Epileptic Disord, 18(2), 123–136. https://doi.org/10.1684/epd.2016.0830
Mastrangelo, Mario, Ingrid E. Scheffer, Nuria C. Bramswig, Lal D. V. Nair, Candace T. Myers, Maria Lisa Dentici, Georg C. Korenke, et al. “Epilepsy in KCNH1-related syndromes.Epileptic Disord 18, no. 2 (June 1, 2016): 123–36. https://doi.org/10.1684/epd.2016.0830.
Mastrangelo M, Scheffer IE, Bramswig NC, Nair LDV, Myers CT, Dentici ML, et al. Epilepsy in KCNH1-related syndromes. Epileptic Disord. 2016 Jun 1;18(2):123–36.
Mastrangelo, Mario, et al. “Epilepsy in KCNH1-related syndromes.Epileptic Disord, vol. 18, no. 2, June 2016, pp. 123–36. Pubmed, doi:10.1684/epd.2016.0830.
Mastrangelo M, Scheffer IE, Bramswig NC, Nair LDV, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V. Epilepsy in KCNH1-related syndromes. Epileptic Disord. 2016 Jun 1;18(2):123–136.
Journal cover image

Published In

Epileptic Disord

DOI

EISSN

1950-6945

Publication Date

June 1, 2016

Volume

18

Issue

2

Start / End Page

123 / 136

Location

United States

Related Subject Headings

  • Young Adult
  • Thumb
  • Syndrome
  • Neurology & Neurosurgery
  • Nails, Malformed
  • Male
  • Intellectual Disability
  • Infant
  • Humans
  • Hand Deformities, Congenital