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Epilepsy, hot water, 1(HWE1)

MedGen UID:
1636069
Concept ID:
C4551550
Disease or Syndrome
Synonym: HWE1
 
Monarch Initiative: MONDO:0024508
OMIM®: 613339

Clinical features

From HPO
Febrile seizure (within the age range of 3 months to 6 years)
MedGen UID:
3232
Concept ID:
C0009952
Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
Drowsiness
MedGen UID:
4390
Concept ID:
C0013144
Finding
Abnormal feeling of sleepiness or difficulty staying awake.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

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
Meghana A, Sinha S, Sathyaprabha TN, Subbakrishna DK, Satishchandra P
Epilepsy Res 2012 Dec;102(3):160-6. Epub 2012 Jun 22 doi: 10.1016/j.eplepsyres.2012.05.011. PMID: 22727658
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

Yimenicioğlu S, Ekici A
Epilepsy Res 2024 Sep;205:107418. Epub 2024 Jul 14 doi: 10.1016/j.eplepsyres.2024.107418. PMID: 39003967
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
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
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
Meghana A, Sinha S, Sathyaprabha TN, Subbakrishna DK, Satishchandra P
Epilepsy Res 2012 Dec;102(3):160-6. Epub 2012 Jun 22 doi: 10.1016/j.eplepsyres.2012.05.011. PMID: 22727658

Diagnosis

Yimenicioğlu S, Ekici A
Epilepsy Res 2024 Sep;205:107418. Epub 2024 Jul 14 doi: 10.1016/j.eplepsyres.2024.107418. PMID: 39003967
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
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
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
Xue LY, Ritaccio AL
Am J Electroneurodiagnostic Technol 2006 Mar;46(1):39-48. PMID: 16605171

Therapy

Yimenicioğlu S, Ekici A
Epilepsy Res 2024 Sep;205:107418. Epub 2024 Jul 14 doi: 10.1016/j.eplepsyres.2024.107418. PMID: 39003967
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
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
Meghana A, Sinha S, Sathyaprabha TN, Subbakrishna DK, Satishchandra P
Epilepsy Res 2012 Dec;102(3):160-6. Epub 2012 Jun 22 doi: 10.1016/j.eplepsyres.2012.05.011. PMID: 22727658
Xue LY, Ritaccio AL
Am J Electroneurodiagnostic Technol 2006 Mar;46(1):39-48. PMID: 16605171

Prognosis

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
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
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
Zeki G, Ilker IH, Hidir UU, Zeki O
Neurologist 2010 Mar;16(2):109-12. doi: 10.1097/NRL.0b013e3181bd603c. PMID: 20220445
Bebek N, Gürses C, Gokyigit A, Baykan B, Ozkara C, Dervent A
Epilepsia 2001 Sep;42(9):1180-4. doi: 10.1046/j.1528-1157.2001.31000.x. PMID: 11580768

Clinical prediction guides

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
Karan KR, Satishchandra P, Sinha S, Anand A
J Genet 2018 Jun;97(2):391-398. PMID: 29932058
Meghana A, Sinha S, Sathyaprabha TN, Subbakrishna DK, Satishchandra P
Epilepsy Res 2012 Dec;102(3):160-6. Epub 2012 Jun 22 doi: 10.1016/j.eplepsyres.2012.05.011. PMID: 22727658
Yalçin AD, Toydemir HE, Forta H
Epilepsy Behav 2006 Aug;9(1):89-94. Epub 2006 May 15 doi: 10.1016/j.yebeh.2006.03.013. PMID: 16698323
Oguni H, Hayashi K, Awaya Y, Fukuyama Y, Osawa M
Brain Dev 2001 Nov;23(7):736-48. doi: 10.1016/s0387-7604(01)00276-5. PMID: 11701288

Supplemental Content

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