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Developmental and epileptic encephalopathy 113

MedGen UID:
1054460
•Concept ID:
CN377240
•
Disease or Syndrome
Synonym: developmental and epileptic encephalopathy 113
 
Gene (location): SV2A (1q21.2)
 
Monarch Initiative: MONDO:0958330
OMIM®: 620772

Definition

Developmental and epileptic encephalopathy-113 (DEE113) is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam. Patients develop secondary failure of growth and development (summary by and Huq, 2015 and Al-Maawali et al., 2024). For general phenotypic information and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Professional guidelines

PubMed

Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment.
Mizuguchi M, Ohsawa M, Kashii H, Sato A
Int J Mol Sci 2021 Jun 22;22(13) doi: 10.3390/ijms22136677. PMID: 34206526Free PMC Article
Predictive Value of Thompson-Score for Long-Term Neurological and Cognitive Outcome in Term Newborns with Perinatal Asphyxia and Hypoxic-Ischemic Encephalopathy Undergoing Controlled Hypothermia Treatment.
Mendler MR, Mendler I, Hassan MA, Mayer B, Bode H, Hummler HD
Neonatology 2018;114(4):341-347. Epub 2018 Aug 21 doi: 10.1159/000490721. PMID: 30130752

Recent clinical studies

Etiology

Neurodevelopmental outcomes after prenatal exposure to lamotrigine monotherapy in women with epilepsy: a systematic review and meta-analysis.
Peron A, Picot C, Jurek L, Nourredine M, Ripoche E, Ajiji P, Cucherat M, Cottin J
BMC Pregnancy Childbirth 2024 Feb 2;24(1):103. doi: 10.1186/s12884-023-06242-9. PMID: 38308208Free PMC Article
Sleep effects of Ketogenic diet in pediatric patients with migraine: Preliminary data of a prospective study.
Pasca L, Toni F, Fassio F, Dogliani S, Genta S, Grumi S, Sammartano A, Vitali H, Capriglia E, Tagliabue A, Guglielmetti M, De Giorgis V, Carpani A, Terzaghi M
Sleep Med 2024 Jan;113:238-241. Epub 2023 Dec 7 doi: 10.1016/j.sleep.2023.11.1132. PMID: 38064795
Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China.
Chen Y, Liu A, Zhang X, Ma X, Sun D, Tian X, Wu W, Zeng Q, Jiang Y, Zhang Y
Dev Med Child Neurol 2024 Jun;66(6):804-815. Epub 2023 Nov 13 doi: 10.1111/dmcn.15803. PMID: 37960945
Temporal encephaloceles and coexisting epileptogenic lesions.
Tsalouchidou PE, Zoellner JP, Kirscht A, Mueller CJ, Nimsky C, Schulze M, Hattingen E, Chatzis G, Freiman TM, Strzelczyk A, Fuest S, Menzler K, Rosenow F, Knake S
Epilepsia Open 2023 Mar;8(1):113-124. Epub 2022 Dec 18 doi: 10.1002/epi4.12674. PMID: 36408781Free PMC Article
The genetics of autism.
Muhle R, Trentacoste SV, Rapin I
Pediatrics 2004 May;113(5):e472-86. doi: 10.1542/peds.113.5.e472. PMID: 15121991

Diagnosis

Sleep effects of Ketogenic diet in pediatric patients with migraine: Preliminary data of a prospective study.
Pasca L, Toni F, Fassio F, Dogliani S, Genta S, Grumi S, Sammartano A, Vitali H, Capriglia E, Tagliabue A, Guglielmetti M, De Giorgis V, Carpani A, Terzaghi M
Sleep Med 2024 Jan;113:238-241. Epub 2023 Dec 7 doi: 10.1016/j.sleep.2023.11.1132. PMID: 38064795
Temporal encephaloceles and coexisting epileptogenic lesions.
Tsalouchidou PE, Zoellner JP, Kirscht A, Mueller CJ, Nimsky C, Schulze M, Hattingen E, Chatzis G, Freiman TM, Strzelczyk A, Fuest S, Menzler K, Rosenow F, Knake S
Epilepsia Open 2023 Mar;8(1):113-124. Epub 2022 Dec 18 doi: 10.1002/epi4.12674. PMID: 36408781Free PMC Article
Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment.
Mizuguchi M, Ohsawa M, Kashii H, Sato A
Int J Mol Sci 2021 Jun 22;22(13) doi: 10.3390/ijms22136677. PMID: 34206526Free PMC Article
Three different scenarios for epileptic spasms.
Fusco L, Serino D, Santarone ME
Epilepsy Behav 2020 Dec;113:107531. Epub 2020 Nov 25 doi: 10.1016/j.yebeh.2020.107531. PMID: 33248400
The genetics of autism.
Muhle R, Trentacoste SV, Rapin I
Pediatrics 2004 May;113(5):e472-86. doi: 10.1542/peds.113.5.e472. PMID: 15121991

Therapy

Neurodevelopmental outcomes after prenatal exposure to lamotrigine monotherapy in women with epilepsy: a systematic review and meta-analysis.
Peron A, Picot C, Jurek L, Nourredine M, Ripoche E, Ajiji P, Cucherat M, Cottin J
BMC Pregnancy Childbirth 2024 Feb 2;24(1):103. doi: 10.1186/s12884-023-06242-9. PMID: 38308208Free PMC Article
Clinician views regarding early surgery for paediatric epilepsy.
Salim O, Chari A, Zvi IB, Batchelor R, Baldeweg T, Helen Cross J, Tisdall M
Seizure 2023 Dec;113:80-85. Epub 2023 Nov 20 doi: 10.1016/j.seizure.2023.11.011. PMID: 38000223
Three different scenarios for epileptic spasms.
Fusco L, Serino D, Santarone ME
Epilepsy Behav 2020 Dec;113:107531. Epub 2020 Nov 25 doi: 10.1016/j.yebeh.2020.107531. PMID: 33248400
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study.
Specchio N, Pietrafusa N, Doccini V, Trivisano M, Darra F, Ragona F, Cossu A, Spolverato S, Battaglia D, Quintiliani M, Luigia Gambardella M, Rosati A, Mei D, Granata T, Dalla Bernardina B, Vigevano F, Guerrini R
Epilepsia 2020 Nov;61(11):2405-2414. Epub 2020 Sep 18 doi: 10.1111/epi.16690. PMID: 32945537
Exposure to antiepileptic drugs in utero and child development: a prospective population-based study.
Veiby G, Daltveit AK, Schjølberg S, Stoltenberg C, Øyen AS, Vollset SE, Engelsen BA, Gilhus NE
Epilepsia 2013 Aug;54(8):1462-72. Epub 2013 Jul 19 doi: 10.1111/epi.12226. PMID: 23865818Free PMC Article

Prognosis

Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China.
Chen Y, Liu A, Zhang X, Ma X, Sun D, Tian X, Wu W, Zeng Q, Jiang Y, Zhang Y
Dev Med Child Neurol 2024 Jun;66(6):804-815. Epub 2023 Nov 13 doi: 10.1111/dmcn.15803. PMID: 37960945
Long-term seizure and developmental outcomes of epilepsy surgery in children under 3 years old: A single-center study of 113 patients.
Yu H, Liu Q, Wang R, Liu C, Sun Y, Wang Y, Ji T, Wang S, Liu X, Jiang Y, Cai L
CNS Neurosci Ther 2024 Jan;30(1):e14481. Epub 2023 Oct 3 doi: 10.1111/cns.14481. PMID: 37786975Free PMC Article
Clinical characteristics and surgical outcomes in children with mild malformation of cortical development and oligodendroglial hyperplasia in epilepsy.
Liu X, Zhu Y, Liu Q, Zhang S, Wu P, Sun Y, Zhang J, Wang R, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y
Epilepsia Open 2023 Sep;8(3):898-911. Epub 2023 May 16 doi: 10.1002/epi4.12755. PMID: 37144544Free PMC Article
Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.
Farach LS, Richard MA, Lupo PJ, Sahin M, Krueger DA, Wu JY, Bebin EM, Au KS, Northrup H; TACERN Study Group
Pediatr Neurol 2020 Dec;113:46-50. Epub 2020 Jul 29 doi: 10.1016/j.pediatrneurol.2020.07.015. PMID: 33011641Free PMC Article
Focal cortical dysplasia: prevalence, clinical presentation and epilepsy in children and adults.
Bast T, Ramantani G, Seitz A, Rating D
Acta Neurol Scand 2006 Feb;113(2):72-81. doi: 10.1111/j.1600-0404.2005.00555.x. PMID: 16411966

Clinical prediction guides

Neurodevelopmental outcomes after prenatal exposure to lamotrigine monotherapy in women with epilepsy: a systematic review and meta-analysis.
Peron A, Picot C, Jurek L, Nourredine M, Ripoche E, Ajiji P, Cucherat M, Cottin J
BMC Pregnancy Childbirth 2024 Feb 2;24(1):103. doi: 10.1186/s12884-023-06242-9. PMID: 38308208Free PMC Article
Clinical characteristics and surgical outcomes in children with mild malformation of cortical development and oligodendroglial hyperplasia in epilepsy.
Liu X, Zhu Y, Liu Q, Zhang S, Wu P, Sun Y, Zhang J, Wang R, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y
Epilepsia Open 2023 Sep;8(3):898-911. Epub 2023 May 16 doi: 10.1002/epi4.12755. PMID: 37144544Free PMC Article
CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism.
Takahashi S, Takeguchi R, Tanaka R, Fukuoka M, Koike T, Ohtani H, Inoue K, Fukuda M, Kurahashi H, Nakamura K, Tominaga K, Matsubayashi T, Itoh M, Tanaka T
J Neurol Sci 2022 Dec 15;443:120498. Epub 2022 Nov 16 doi: 10.1016/j.jns.2022.120498. PMID: 36417806
Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder.
Leonard H, Junaid M, Wong K, Aimetti AA, Pestana Knight E, Downs J
Epilepsia 2022 Feb;63(2):352-363. Epub 2021 Nov 27 doi: 10.1111/epi.17125. PMID: 34837650
Focal cortical dysplasia: prevalence, clinical presentation and epilepsy in children and adults.
Bast T, Ramantani G, Seitz A, Rating D
Acta Neurol Scand 2006 Feb;113(2):72-81. doi: 10.1111/j.1600-0404.2005.00555.x. PMID: 16411966

Recent systematic reviews

A comprehensive systematic literature review of the burden of illness of Lennox-Gastaut syndrome on patients, caregivers, and society.
Cross JH, Benítez A, Roth J, Andrews JS, Shah D, Butcher E, Jones A, Sullivan J
Epilepsia 2024 May;65(5):1224-1239. Epub 2024 Mar 8 doi: 10.1111/epi.17932. PMID: 38456647
Neurodevelopmental outcomes after prenatal exposure to lamotrigine monotherapy in women with epilepsy: a systematic review and meta-analysis.
Peron A, Picot C, Jurek L, Nourredine M, Ripoche E, Ajiji P, Cucherat M, Cottin J
BMC Pregnancy Childbirth 2024 Feb 2;24(1):103. doi: 10.1186/s12884-023-06242-9. PMID: 38308208Free PMC Article

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