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Hot water reflex epilepsy

MedGen UID:
1631373
•Concept ID:
C4706506
•
Disease or Syndrome
Synonym: Hot water epilepsy
SNOMED CT: Hot water reflex epilepsy (763534009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0013229
OMIM® Phenotypic series: PS613339
Orphanet: ORPHA166412

Definition

A rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHot water reflex epilepsy

Professional guidelines

PubMed

Reflex Epilepsy with Hot Water: Clinical and EEG Findings, Treatment, and Prognosis in Childhood.
Hanci F, Türay S, Balci P, Kabakuş N
Neuropediatrics 2020 Oct;51(5):336-340. Epub 2020 Apr 15 doi: 10.1055/s-0040-1709455. PMID: 32294767
Hot water epilepsy: seizure type, water temperature, EEG findings and treatment.
Zeki G, Ilker IH, Hidir UU, Zeki O
Neurologist 2010 Mar;16(2):109-12. doi: 10.1097/NRL.0b013e3181bd603c. PMID: 20220445

Recent clinical studies

Etiology

Long-term clinical course and prognosis of hot water epilepsy: 15-Year follow-up.
Balgetir F, Gönen M, Müngen E, Berilgen A, Müngen B
Epilepsy Behav 2022 Apr;129:108607. Epub 2022 Feb 15 doi: 10.1016/j.yebeh.2022.108607. PMID: 35180572
Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children.
Bharathi NK, Shivappa SK, Gowda VK, Shivalingaiah S, Benakappa A
Indian J Pediatr 2021 Sep;88(9):885-891. Epub 2021 Jan 8 doi: 10.1007/s12098-020-03570-y. PMID: 33417183
Reflex Epilepsy with Hot Water: Clinical and EEG Findings, Treatment, and Prognosis in Childhood.
Hanci F, Türay S, Balci P, Kabakuş N
Neuropediatrics 2020 Oct;51(5):336-340. Epub 2020 Apr 15 doi: 10.1055/s-0040-1709455. PMID: 32294767
Clinical and electrophysiological findings in patients with phenylketonuria and epilepsy: Reflex features.
Yildiz Celik S, Bebek N, Gurses C, Baykan B, Gokyigit A
Epilepsy Behav 2018 May;82:46-51. Epub 2018 Mar 24 doi: 10.1016/j.yebeh.2018.02.024. PMID: 29579554
Hot water epilepsy: seizure type, water temperature, EEG findings and treatment.
Zeki G, Ilker IH, Hidir UU, Zeki O
Neurologist 2010 Mar;16(2):109-12. doi: 10.1097/NRL.0b013e3181bd603c. PMID: 20220445

Diagnosis

Long-term clinical course and prognosis of hot water epilepsy: 15-Year follow-up.
Balgetir F, Gönen M, Müngen E, Berilgen A, Müngen B
Epilepsy Behav 2022 Apr;129:108607. Epub 2022 Feb 15 doi: 10.1016/j.yebeh.2022.108607. PMID: 35180572
Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children.
Bharathi NK, Shivappa SK, Gowda VK, Shivalingaiah S, Benakappa A
Indian J Pediatr 2021 Sep;88(9):885-891. Epub 2021 Jan 8 doi: 10.1007/s12098-020-03570-y. PMID: 33417183
Reflex Epilepsy with Hot Water: Clinical and EEG Findings, Treatment, and Prognosis in Childhood.
Hanci F, Türay S, Balci P, Kabakuş N
Neuropediatrics 2020 Oct;51(5):336-340. Epub 2020 Apr 15 doi: 10.1055/s-0040-1709455. PMID: 32294767
Reflex seizures and reflex epilepsy.
Xue LY, Ritaccio AL
Am J Electroneurodiagnostic Technol 2006 Mar;46(1):39-48. PMID: 16605171
Hot-water epilepsy.
Satishchandra P
Epilepsia 2003;44 Suppl 1:29-32. doi: 10.1046/j.1528-1157.44.s.1.14.x. PMID: 12558829

Therapy

Long-term clinical course and prognosis of hot water epilepsy: 15-Year follow-up.
Balgetir F, Gönen M, Müngen E, Berilgen A, Müngen B
Epilepsy Behav 2022 Apr;129:108607. Epub 2022 Feb 15 doi: 10.1016/j.yebeh.2022.108607. PMID: 35180572
Reflex Epilepsy with Hot Water: Clinical and EEG Findings, Treatment, and Prognosis in Childhood.
Hanci F, Türay S, Balci P, Kabakuş N
Neuropediatrics 2020 Oct;51(5):336-340. Epub 2020 Apr 15 doi: 10.1055/s-0040-1709455. PMID: 32294767
Autonomic function in reflex and non-reflex epilepsy--an exploratory study.
Meghana A, Sriranjini SJ, Sathyaprabha T, Sanjib S, Prathyusha V, Satishchandra P
Acta Neurol Scand 2016 Jun;133(6):459-65. Epub 2015 Sep 15 doi: 10.1111/ane.12486. PMID: 26369268
Generalized versus partial reflex seizures: a review.
Italiano D, Ferlazzo E, Gasparini S, Spina E, Mondello S, Labate A, Gambardella A, Aguglia U
Seizure 2014 Aug;23(7):512-20. Epub 2014 Apr 1 doi: 10.1016/j.seizure.2014.03.014. PMID: 24766826
Reflex seizures and reflex epilepsy.
Xue LY, Ritaccio AL
Am J Electroneurodiagnostic Technol 2006 Mar;46(1):39-48. PMID: 16605171

Prognosis

Long-term clinical course and prognosis of hot water epilepsy: 15-Year follow-up.
Balgetir F, Gönen M, Müngen E, Berilgen A, Müngen B
Epilepsy Behav 2022 Apr;129:108607. Epub 2022 Feb 15 doi: 10.1016/j.yebeh.2022.108607. PMID: 35180572
Reflex Epilepsy with Hot Water: Clinical and EEG Findings, Treatment, and Prognosis in Childhood.
Hanci F, Türay S, Balci P, Kabakuş N
Neuropediatrics 2020 Oct;51(5):336-340. Epub 2020 Apr 15 doi: 10.1055/s-0040-1709455. PMID: 32294767
Intermittent clobazam prophylaxis in hot water epilepsy is safe and effective: a prospective study.
Satishchandra P, Dilipkumar S, Subbakrishna DK, Sinha S
Epilepsy Res 2014 Sep;108(7):1238-42. Epub 2014 May 27 doi: 10.1016/j.eplepsyres.2014.04.016. PMID: 24929679
Generalized versus partial reflex seizures: a review.
Italiano D, Ferlazzo E, Gasparini S, Spina E, Mondello S, Labate A, Gambardella A, Aguglia U
Seizure 2014 Aug;23(7):512-20. Epub 2014 Apr 1 doi: 10.1016/j.seizure.2014.03.014. PMID: 24766826
Hot water epilepsy: seizure type, water temperature, EEG findings and treatment.
Zeki G, Ilker IH, Hidir UU, Zeki O
Neurologist 2010 Mar;16(2):109-12. doi: 10.1097/NRL.0b013e3181bd603c. PMID: 20220445

Clinical prediction guides

Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children.
Bharathi NK, Shivappa SK, Gowda VK, Shivalingaiah S, Benakappa A
Indian J Pediatr 2021 Sep;88(9):885-891. Epub 2021 Jan 8 doi: 10.1007/s12098-020-03570-y. PMID: 33417183
Cortical-Subcortical morphometric signature of hot water epilepsy patients.
Kenchaiah R, Satishchandra P, Bhargava Goutham K, Dawn BR, Sain J, Kulanthaivelu K, Mundlamuri RC, Asranna A, Sinha S
Epilepsy Res 2020 Nov;167:106436. Epub 2020 Aug 8 doi: 10.1016/j.eplepsyres.2020.106436. PMID: 32846313
Clinical and electrophysiological findings in patients with phenylketonuria and epilepsy: Reflex features.
Yildiz Celik S, Bebek N, Gurses C, Baykan B, Gokyigit A
Epilepsy Behav 2018 May;82:46-51. Epub 2018 Mar 24 doi: 10.1016/j.yebeh.2018.02.024. PMID: 29579554
Autonomic function in reflex and non-reflex epilepsy--an exploratory study.
Meghana A, Sriranjini SJ, Sathyaprabha T, Sanjib S, Prathyusha V, Satishchandra P
Acta Neurol Scand 2016 Jun;133(6):459-65. Epub 2015 Sep 15 doi: 10.1111/ane.12486. PMID: 26369268
Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28.
Ratnapriya R, Satishchandra P, Dilip S, Gadre G, Anand A
Hum Genet 2009 Nov;126(5):677-83. Epub 2009 Jul 14 doi: 10.1007/s00439-009-0718-6. PMID: 19597845

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