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Developmental and epileptic encephalopathy 103(DEE103)

MedGen UID:
1809962
Concept ID:
C5677002
Disease or Syndrome
Synonym: DEE103
 
Gene (location): KCNC2 (12q21.1)
 
Monarch Initiative: MONDO:0030957
OMIM®: 619913

Definition

Developmental and epileptic encephalopathy-103 (DEE103) is characterized by onset of various types of seizures in the first year of life, most of which are refractory to treatment. Affected individuals show global developmental delay with impaired intellectual development ranging from mild to severe. Additional features may include hypotonia, ataxia, and behavioral abnormalities, including autism and hyperactivity (Schwarz et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Clinical features

From HPO
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Aphasia
MedGen UID:
8159
Concept ID:
C0003537
Mental or Behavioral Dysfunction
An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Arachnoid cyst
MedGen UID:
86860
Concept ID:
C0078981
Disease or Syndrome
An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
Opisthotonus
MedGen UID:
56246
Concept ID:
C0151818
Sign or Symptom
Focal impaired awareness seizure
MedGen UID:
543022
Concept ID:
C0270834
Disease or Syndrome
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
Tonic seizure
MedGen UID:
82855
Concept ID:
C0270844
Disease or Syndrome
A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.
Atonic seizure
MedGen UID:
78735
Concept ID:
C0270846
Disease or Syndrome
Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
Spastic tetraplegia
MedGen UID:
98433
Concept ID:
C0426970
Disease or Syndrome
Spastic paralysis affecting all four limbs.
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.
Epileptic encephalopathy
MedGen UID:
452596
Concept ID:
C0543888
Disease or Syndrome
A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
Hypsarrhythmia
MedGen UID:
195766
Concept ID:
C0684276
Finding
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Eyelid myoclonus
MedGen UID:
148288
Concept ID:
C0751349
Disease or Syndrome
Marked, involuntary jerking of the eyelids.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Epileptic spasm
MedGen UID:
315948
Concept ID:
C1527366
Disease or Syndrome
A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur
Severe global developmental delay
MedGen UID:
332436
Concept ID:
C1837397
Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
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.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Continuous spike and waves during slow sleep
MedGen UID:
812733
Concept ID:
C3806403
Finding
Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.
EEG with polyspike wave complexes
MedGen UID:
867392
Concept ID:
C4021757
Finding
The presence of complexes of repetitive spikes and waves in EEG.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Generalized non-motor (absence) seizure
MedGen UID:
1385688
Concept ID:
C4316903
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
Myoclonic seizure
MedGen UID:
1385980
Concept ID:
C4317123
Sign or Symptom
A myoclonic seizure is a type of motor seizure characterised 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.
Tonic status epilepticus
MedGen UID:
1717093
Concept ID:
C5398026
Disease or Syndrome
Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.
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.
Trismus
MedGen UID:
21671
Concept ID:
C0041105
Disease or Syndrome
Limitation in the ability to open the mouth.
Poor head control
MedGen UID:
322809
Concept ID:
C1836038
Finding
Difficulty to maintain correct position of the head while standing or sitting.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Finding
Habitual flow of saliva out of the mouth.

Professional guidelines

PubMed

Chourasia N, Yuskaitis CJ, Libenson MH, Bergin AM, Liu S, Zhang B, Poduri A, Harini C
Epilepsia 2022 May;63(5):1164-1176. Epub 2022 Mar 18 doi: 10.1111/epi.17209. PMID: 35211955
Barcia Aguilar C, Amengual-Gual M, Sánchez Fernández I, Abend NS, Anderson A, Appavu B, Arya R, Brenton JN, Carpenter JL, Chapman KE, Clark J, Farias-Moeller R, Gaillard WD, Gaínza-Lein M, Glauser T, Goldstein JL, Goodkin HP, Guerriero RM, Huh L, Lai YC, McDonough TL, Mikati MA, Morgan LA, Novotny EJ, Ostendorf A, Payne ET, Peariso K, Piantino J, Riviello J, Sannagowdara K, Sheehan T, Sands TT, Tasker RC, Tchapyjnikov D, Topjian AA, Vasquez A, Wainwright MS, Wilfong AA, Williams K, Loddenkemper T; pSERG
Pediatr Neurol 2021 Jul;120:71-79. Epub 2021 Mar 26 doi: 10.1016/j.pediatrneurol.2021.03.009. PMID: 34022752
Ko A, Youn SE, Kim SH, Lee JS, Kim S, Choi JR, Kim HD, Lee ST, Kang HC
Epilepsy Res 2018 Mar;141:48-55. Epub 2018 Feb 12 doi: 10.1016/j.eplepsyres.2018.02.003. PMID: 29455050

Recent clinical studies

Etiology

Karim T, Das MC, Muhit M, Badawi N, Khandaker G, Mohammad SS
BMJ Open 2022 Apr 5;12(4):e052578. doi: 10.1136/bmjopen-2021-052578. PMID: 35383059Free PMC Article
Paget S, Ostojic K, Goldsmith S, Nassar N, McIntyre S
Arch Phys Med Rehabil 2022 Aug;103(8):1628-1637. Epub 2021 Dec 28 doi: 10.1016/j.apmr.2021.12.003. PMID: 34968439
Ko A, Youn SE, Kim SH, Lee JS, Kim S, Choi JR, Kim HD, Lee ST, Kang HC
Epilepsy Res 2018 Mar;141:48-55. Epub 2018 Feb 12 doi: 10.1016/j.eplepsyres.2018.02.003. PMID: 29455050
Stalldecker G, Mallea-Gil MS, Guitelman M, Alfieri A, Ballarino MC, Boero L, Chervin A, Danilowicz K, Diez S, Fainstein-Day P, García-Basavilbaso N, Glerean M, Gollan V, Katz D, Loto MG, Manavela M, Rogozinski AS, Servidio M, Vitale NM
Pituitary 2010 Dec;13(4):345-50. doi: 10.1007/s11102-010-0243-6. PMID: 20676778
Banach R, Boskovic R, Einarson T, Koren G
Drug Saf 2010 Jan 1;33(1):73-9. doi: 10.2165/11317640-000000000-00000. PMID: 20000869

Diagnosis

Alvarez C, Grimmel M, Ebrahimi-Fakhari D, Paul VG, Deininger N, Riess A, Haack T, Gardella E, Møller RS, Bayat A
Clin Genet 2023 May;103(5):566-573. Epub 2023 Jan 11 doi: 10.1111/cge.14275. PMID: 36453471
Scheffer IE, Bennett CA, Gill D, de Silva MG, Boggs K, Marum J, Baker N; Australian Genomics DEE Flagship, Palmer EE, Howell KB
Dev Med Child Neurol 2023 Jan;65(1):50-57. Epub 2022 Jun 14 doi: 10.1111/dmcn.15308. PMID: 35701389
Evans NJ, Das K
Seizure 2022 Dec;103:68-71. Epub 2022 Oct 28 doi: 10.1016/j.seizure.2022.10.020. PMID: 36332460
Schoenberger A, Capal JK, Ondracek A, Horn PS, Murray D, Byars AW, Pearson DA, Williams ME, Bebin M, Northrup H, Wu JY, Sahin M, Krueger DA
Epilepsy Behav 2020 Feb;103(Pt A):106844. Epub 2019 Dec 18 doi: 10.1016/j.yebeh.2019.106844. PMID: 31864941Free PMC Article
Ko A, Youn SE, Kim SH, Lee JS, Kim S, Choi JR, Kim HD, Lee ST, Kang HC
Epilepsy Res 2018 Mar;141:48-55. Epub 2018 Feb 12 doi: 10.1016/j.eplepsyres.2018.02.003. PMID: 29455050

Therapy

Wiegand G, Japaridze N, Gröning K, Stephani U, Kadish NE
Seizure 2022 Dec;103:101-107. Epub 2022 Oct 31 doi: 10.1016/j.seizure.2022.10.022. PMID: 36370680
Karim T, Das MC, Muhit M, Badawi N, Khandaker G, Mohammad SS
BMJ Open 2022 Apr 5;12(4):e052578. doi: 10.1136/bmjopen-2021-052578. PMID: 35383059Free PMC Article
Stalldecker G, Mallea-Gil MS, Guitelman M, Alfieri A, Ballarino MC, Boero L, Chervin A, Danilowicz K, Diez S, Fainstein-Day P, García-Basavilbaso N, Glerean M, Gollan V, Katz D, Loto MG, Manavela M, Rogozinski AS, Servidio M, Vitale NM
Pituitary 2010 Dec;13(4):345-50. doi: 10.1007/s11102-010-0243-6. PMID: 20676778
Banach R, Boskovic R, Einarson T, Koren G
Drug Saf 2010 Jan 1;33(1):73-9. doi: 10.2165/11317640-000000000-00000. PMID: 20000869
Besag FM
J Child Psychol Psychiatry 2002 Jan;43(1):103-31. doi: 10.1111/1469-7610.00006. PMID: 11858202

Prognosis

Scheffer IE, Bennett CA, Gill D, de Silva MG, Boggs K, Marum J, Baker N; Australian Genomics DEE Flagship, Palmer EE, Howell KB
Dev Med Child Neurol 2023 Jan;65(1):50-57. Epub 2022 Jun 14 doi: 10.1111/dmcn.15308. PMID: 35701389
Li X, Bian WJ, Liu XR, Wang J, Luo S, Li BM, Yi YH, Wu QY, Zhai QX, Gao LD, Zhang HF, He N, Liao WP; China Epilepsy Gene 1.0 Project
Epilepsy Res 2022 Nov;187:107036. Epub 2022 Oct 19 doi: 10.1016/j.eplepsyres.2022.107036. PMID: 36279688
Schoenberger A, Capal JK, Ondracek A, Horn PS, Murray D, Byars AW, Pearson DA, Williams ME, Bebin M, Northrup H, Wu JY, Sahin M, Krueger DA
Epilepsy Behav 2020 Feb;103(Pt A):106844. Epub 2019 Dec 18 doi: 10.1016/j.yebeh.2019.106844. PMID: 31864941Free PMC Article
Okanishi T, Fujimoto A, Kanai S, Sakuma S, Ito S, Okanari K, Nishimura M, Masui T, Enoki H
Epilepsy Behav 2020 Feb;103(Pt A):106535. Epub 2019 Oct 20 doi: 10.1016/j.yebeh.2019.106535. PMID: 31645317
van der Kolk NM, Boshuisen K, van Empelen R, Koudijs SM, Staudt M, van Rijen PC, van Nieuwenhuizen O, Braun KP
Epilepsy Res 2013 Feb;103(2-3):221-30. Epub 2012 Sep 11 doi: 10.1016/j.eplepsyres.2012.08.007. PMID: 22974527

Clinical prediction guides

Li X, Bian WJ, Liu XR, Wang J, Luo S, Li BM, Yi YH, Wu QY, Zhai QX, Gao LD, Zhang HF, He N, Liao WP; China Epilepsy Gene 1.0 Project
Epilepsy Res 2022 Nov;187:107036. Epub 2022 Oct 19 doi: 10.1016/j.eplepsyres.2022.107036. PMID: 36279688
Paget S, Ostojic K, Goldsmith S, Nassar N, McIntyre S
Arch Phys Med Rehabil 2022 Aug;103(8):1628-1637. Epub 2021 Dec 28 doi: 10.1016/j.apmr.2021.12.003. PMID: 34968439
Schoenberger A, Capal JK, Ondracek A, Horn PS, Murray D, Byars AW, Pearson DA, Williams ME, Bebin M, Northrup H, Wu JY, Sahin M, Krueger DA
Epilepsy Behav 2020 Feb;103(Pt A):106844. Epub 2019 Dec 18 doi: 10.1016/j.yebeh.2019.106844. PMID: 31864941Free PMC Article
Stalldecker G, Mallea-Gil MS, Guitelman M, Alfieri A, Ballarino MC, Boero L, Chervin A, Danilowicz K, Diez S, Fainstein-Day P, García-Basavilbaso N, Glerean M, Gollan V, Katz D, Loto MG, Manavela M, Rogozinski AS, Servidio M, Vitale NM
Pituitary 2010 Dec;13(4):345-50. doi: 10.1007/s11102-010-0243-6. PMID: 20676778
Banach R, Boskovic R, Einarson T, Koren G
Drug Saf 2010 Jan 1;33(1):73-9. doi: 10.2165/11317640-000000000-00000. PMID: 20000869

Recent systematic reviews

Paget S, Ostojic K, Goldsmith S, Nassar N, McIntyre S
Arch Phys Med Rehabil 2022 Aug;103(8):1628-1637. Epub 2021 Dec 28 doi: 10.1016/j.apmr.2021.12.003. PMID: 34968439
Dunbar MJ, Woodward K, Leijser LM, Kirton A
Dev Med Child Neurol 2021 Feb;63(2):144-155. Epub 2020 Oct 22 doi: 10.1111/dmcn.14713. PMID: 33094492
Banach R, Boskovic R, Einarson T, Koren G
Drug Saf 2010 Jan 1;33(1):73-9. doi: 10.2165/11317640-000000000-00000. PMID: 20000869

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