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Developmental and epileptic encephalopathy 112

MedGen UID:
1052351
•Concept ID:
CN375607
•
Disease or Syndrome
Synonym: developmental and epileptic encephalopathy 112
 
Gene (location): KCNH5 (14q23.2)
 
Monarch Initiative: MONDO:0957812
OMIM®: 620537

Definition

Developmental and epileptic encephalopathy-112 (DEE112) is an autosomal dominant disorder characterized by a wide range of seizure types, including focal and generalized seizures. Cognitive outcomes range from normal intellect to profound impairment (summary by Happ et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Professional guidelines

PubMed

A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.
Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N
Eur J Hum Genet 2023 Jan;31(1):112-121. Epub 2022 Nov 14 doi: 10.1038/s41431-022-01217-4. PMID: 36376392Free PMC Article
Seizure Severity and Treatment Response in Newborn Infants with Seizures Attributed to Intracranial Hemorrhage.
Herzberg EM, Machie M, Glass HC, Shellhaas RA, Wusthoff CJ, Chang T, Abend NS, Chu CJ, Cilio MR, Bonifacio SL, Massey SL, McCulloch CE, Soul JS; Neonatal Seizure Registry study group
J Pediatr 2022 Mar;242:121-128.e1. Epub 2021 Nov 13 doi: 10.1016/j.jpeds.2021.11.012. PMID: 34780777
Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.
Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
Mol Genet Metab 2014 Aug;112(4):259-74. Epub 2014 May 29 doi: 10.1016/j.ymgme.2014.05.011. PMID: 24953403

Recent clinical studies

Etiology

Modulation index predicts the effect of ethosuximide on developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Shibata T, Tsuchiya H, Akiyama M, Akiyama T, Kobayashi K
Epilepsy Res 2024 May;202:107359. Epub 2024 Apr 4 doi: 10.1016/j.eplepsyres.2024.107359. PMID: 38582072
Clinical Factors Related to Outcomes in Pediatric Epilepsy Surgery: Insight into Predictors of Poor Surgical Outcome.
Oshino S, Tani N, Khoo HM, Kagitani-Shimono K, Nabatame S, Tominaga K, Yanagisawa T, Hirata M, Kishima H
Neurol Med Chir (Tokyo) 2023 May 15;63(5):173-178. Epub 2023 Apr 6 doi: 10.2176/jns-nmc.2022-0300. PMID: 37019652Free PMC Article
Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.
Poke G, Stanley J, Scheffer IE, Sadleir LG
Neurology 2023 Mar 28;100(13):e1363-e1375. Epub 2022 Dec 29 doi: 10.1212/WNL.0000000000206758. PMID: 36581463Free PMC Article
Psychosocial impact on siblings of patients with developmental and epileptic encephalopathies.
Bailey LD, Schwartz L, Dixon-Salazar T, Meskis MA, Galer BS, Gammaitoni AR, Schad C
Epilepsy Behav 2020 Nov;112:107377. Epub 2020 Aug 22 doi: 10.1016/j.yebeh.2020.107377. PMID: 32846306
Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.
Veroniki AA, Rios P, Cogo E, Straus SE, Finkelstein Y, Kealey R, Reynen E, Soobiah C, Thavorn K, Hutton B, Hemmelgarn BR, Yazdi F, D'Souza J, MacDonald H, Tricco AC
BMJ Open 2017 Jul 20;7(7):e017248. doi: 10.1136/bmjopen-2017-017248. PMID: 28729328Free PMC Article

Diagnosis

Modulation index predicts the effect of ethosuximide on developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Shibata T, Tsuchiya H, Akiyama M, Akiyama T, Kobayashi K
Epilepsy Res 2024 May;202:107359. Epub 2024 Apr 4 doi: 10.1016/j.eplepsyres.2024.107359. PMID: 38582072
Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.
Poke G, Stanley J, Scheffer IE, Sadleir LG
Neurology 2023 Mar 28;100(13):e1363-e1375. Epub 2022 Dec 29 doi: 10.1212/WNL.0000000000206758. PMID: 36581463Free PMC Article
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.
Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N
Eur J Hum Genet 2023 Jan;31(1):112-121. Epub 2022 Nov 14 doi: 10.1038/s41431-022-01217-4. PMID: 36376392Free PMC Article
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL, Sadleir LG, Depienne C, Marini C, Scheffer IE, Møller RS, Trivisano M, Specchio N, Pham D, Kumar R, Roberts R, Gecz J
Transl Psychiatry 2020 May 4;10(1):127. doi: 10.1038/s41398-020-0803-0. PMID: 32366910Free PMC Article
Sleep in children with epilepsy: the role of maternal knowledge of childhood sleep.
Tsai SY, Lee WT, Lee CC, Jeng SF, Weng WC
Sleep 2018 Nov 1;41(11) doi: 10.1093/sleep/zsy157. PMID: 30137598

Therapy

Modulation index predicts the effect of ethosuximide on developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Shibata T, Tsuchiya H, Akiyama M, Akiyama T, Kobayashi K
Epilepsy Res 2024 May;202:107359. Epub 2024 Apr 4 doi: 10.1016/j.eplepsyres.2024.107359. PMID: 38582072
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM Jr, van Karnebeek C; International PDE Consortium
Neurology 2022 Dec 5;99(23):e2627-e2636. doi: 10.1212/WNL.0000000000201222. PMID: 36008148Free PMC Article
Sleep in children with epilepsy: the role of maternal knowledge of childhood sleep.
Tsai SY, Lee WT, Lee CC, Jeng SF, Weng WC
Sleep 2018 Nov 1;41(11) doi: 10.1093/sleep/zsy157. PMID: 30137598
Short-term Seizure Outcomes in Childhood Epilepsy.
Aaberg KM, Bakken IJ, Lossius MI, Lund Søraas C, Tallur KK, Stoltenberg C, Chin R, Surén P
Pediatrics 2018 Jun;141(6) Epub 2018 May 22 doi: 10.1542/peds.2017-4016. PMID: 29789444
Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.
Veroniki AA, Rios P, Cogo E, Straus SE, Finkelstein Y, Kealey R, Reynen E, Soobiah C, Thavorn K, Hutton B, Hemmelgarn BR, Yazdi F, D'Souza J, MacDonald H, Tricco AC
BMJ Open 2017 Jul 20;7(7):e017248. doi: 10.1136/bmjopen-2017-017248. PMID: 28729328Free PMC Article

Prognosis

Modulation index predicts the effect of ethosuximide on developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Shibata T, Tsuchiya H, Akiyama M, Akiyama T, Kobayashi K
Epilepsy Res 2024 May;202:107359. Epub 2024 Apr 4 doi: 10.1016/j.eplepsyres.2024.107359. PMID: 38582072
Clinical Factors Related to Outcomes in Pediatric Epilepsy Surgery: Insight into Predictors of Poor Surgical Outcome.
Oshino S, Tani N, Khoo HM, Kagitani-Shimono K, Nabatame S, Tominaga K, Yanagisawa T, Hirata M, Kishima H
Neurol Med Chir (Tokyo) 2023 May 15;63(5):173-178. Epub 2023 Apr 6 doi: 10.2176/jns-nmc.2022-0300. PMID: 37019652Free PMC Article
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL, Sadleir LG, Depienne C, Marini C, Scheffer IE, Møller RS, Trivisano M, Specchio N, Pham D, Kumar R, Roberts R, Gecz J
Transl Psychiatry 2020 May 4;10(1):127. doi: 10.1038/s41398-020-0803-0. PMID: 32366910Free PMC Article
Sleep in children with epilepsy: the role of maternal knowledge of childhood sleep.
Tsai SY, Lee WT, Lee CC, Jeng SF, Weng WC
Sleep 2018 Nov 1;41(11) doi: 10.1093/sleep/zsy157. PMID: 30137598
Short-term Seizure Outcomes in Childhood Epilepsy.
Aaberg KM, Bakken IJ, Lossius MI, Lund Søraas C, Tallur KK, Stoltenberg C, Chin R, Surén P
Pediatrics 2018 Jun;141(6) Epub 2018 May 22 doi: 10.1542/peds.2017-4016. PMID: 29789444

Clinical prediction guides

Clinical Factors Related to Outcomes in Pediatric Epilepsy Surgery: Insight into Predictors of Poor Surgical Outcome.
Oshino S, Tani N, Khoo HM, Kagitani-Shimono K, Nabatame S, Tominaga K, Yanagisawa T, Hirata M, Kishima H
Neurol Med Chir (Tokyo) 2023 May 15;63(5):173-178. Epub 2023 Apr 6 doi: 10.2176/jns-nmc.2022-0300. PMID: 37019652Free PMC Article
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.
Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N
Eur J Hum Genet 2023 Jan;31(1):112-121. Epub 2022 Nov 14 doi: 10.1038/s41431-022-01217-4. PMID: 36376392Free PMC Article
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM Jr, van Karnebeek C; International PDE Consortium
Neurology 2022 Dec 5;99(23):e2627-e2636. doi: 10.1212/WNL.0000000000201222. PMID: 36008148Free PMC Article
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL, Sadleir LG, Depienne C, Marini C, Scheffer IE, Møller RS, Trivisano M, Specchio N, Pham D, Kumar R, Roberts R, Gecz J
Transl Psychiatry 2020 May 4;10(1):127. doi: 10.1038/s41398-020-0803-0. PMID: 32366910Free PMC Article
Sleep in children with epilepsy: the role of maternal knowledge of childhood sleep.
Tsai SY, Lee WT, Lee CC, Jeng SF, Weng WC
Sleep 2018 Nov 1;41(11) doi: 10.1093/sleep/zsy157. PMID: 30137598

Recent systematic reviews

Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.
Veroniki AA, Rios P, Cogo E, Straus SE, Finkelstein Y, Kealey R, Reynen E, Soobiah C, Thavorn K, Hutton B, Hemmelgarn BR, Yazdi F, D'Souza J, MacDonald H, Tricco AC
BMJ Open 2017 Jul 20;7(7):e017248. doi: 10.1136/bmjopen-2017-017248. PMID: 28729328Free PMC Article
Treatment for epilepsy in pregnancy: neurodevelopmental outcomes in the child.
Bromley R, Weston J, Adab N, Greenhalgh J, Sanniti A, McKay AJ, Tudur Smith C, Marson AG
Cochrane Database Syst Rev 2014 Oct 30;2014(10):CD010236. doi: 10.1002/14651858.CD010236.pub2. PMID: 25354543Free PMC Article
Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.
Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
Mol Genet Metab 2014 Aug;112(4):259-74. Epub 2014 May 29 doi: 10.1016/j.ymgme.2014.05.011. PMID: 24953403

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