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Developmental and epileptic encephalopathy 113(DEE113)

MedGen UID:
1859161
Concept ID:
C5935597
Disease or Syndrome
Synonyms: DEE113; 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]

Clinical features

From HPO
Ankle clonus
MedGen UID:
68672
Concept ID:
C0238651
Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Opisthotonus
MedGen UID:
56246
Concept ID:
C0151818
Sign or Symptom
Tonic seizure
MedGen UID:
82855
Concept ID:
C0270844
Disease or Syndrome
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
EEG with burst suppression
MedGen UID:
369943
Concept ID:
C1969156
Finding
The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Reduced brain N-acetyl aspartate level by MRS
MedGen UID:
868367
Concept ID:
C4022761
Finding
A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).
Elevated brain lactate level by MRS
MedGen UID:
868368
Concept ID:
C4022762
Finding
An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).
Myoclonic seizure
MedGen UID:
1385980
Concept ID:
C4317123
Sign or Symptom
A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
Interictal EEG abnormality
MedGen UID:
1377364
Concept ID:
C4476738
Finding
Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.
Thin corpus callosum
MedGen UID:
1785336
Concept ID:
C5441562
Anatomical Abnormality
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
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.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Highly arched eyebrow
MedGen UID:
358357
Concept ID:
C1868571
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Cerebral visual impairment
MedGen UID:
890568
Concept ID:
C4048268
Pathologic Function
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.

Professional guidelines

PubMed

Chourasia N, Vaidya R, Sengupta S, Mefford HC, Wheless J
Pediatr Neurol 2024 Dec;161:101-107. Epub 2024 Sep 13 doi: 10.1016/j.pediatrneurol.2024.09.009. PMID: 39357456
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
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

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
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
Sandfeld Nielsen L, Jensen H, Skov L
Acta Ophthalmol 2008 Dec;86(8):877-81. Epub 2008 Jun 18 doi: 10.1111/j.1755-3768.2007.01158.x. PMID: 18577186
Muhle R, Trentacoste SV, Rapin I
Pediatrics 2004 May;113(5):e472-86. doi: 10.1542/peds.113.5.e472. PMID: 15121991
Yeargin-Allsopp M, Boyle C
Ment Retard Dev Disabil Res Rev 2002;8(3):113-6. doi: 10.1002/mrdd.10030. PMID: 12216055

Diagnosis

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
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
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
Klepper J
Handb Clin Neurol 2013;113:1689-94. doi: 10.1016/B978-0-444-59565-2.00036-8. PMID: 23622389
Muhle R, Trentacoste SV, Rapin I
Pediatrics 2004 May;113(5):e472-86. doi: 10.1542/peds.113.5.e472. PMID: 15121991

Therapy

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
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
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
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
Yeargin-Allsopp M, Boyle C
Ment Retard Dev Disabil Res Rev 2002;8(3):113-6. doi: 10.1002/mrdd.10030. PMID: 12216055

Prognosis

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
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
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
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
Ichimiya Y, Kaku N, Sanefuji M, Torio M, Mizuguchi S, Motomura Y, Muraoka M, Lee S, Baba H, Sonoda Y, Ishizaki Y, Sasazuki M, Sakai Y, Maehara Y, Ohga S
Epilepsy Res 2018 Jul;143:70-74. Epub 2018 Apr 11 doi: 10.1016/j.eplepsyres.2018.04.006. PMID: 29669310

Clinical prediction guides

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
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
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
Sehgal R, Gulati S, Sapra S, Tripathi M, Kabra M, Pandey RM
Epilepsy Res 2014 Mar;108(3):526-34. Epub 2013 Dec 30 doi: 10.1016/j.eplepsyres.2013.12.009. PMID: 24439210
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

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
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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