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Epileptic encephalopathy, infantile or early childhood, 2(IECEE2; DEE92)

MedGen UID:
1638319
Concept ID:
C4693362
Disease or Syndrome
Synonym: Developmental and epileptic encephalopathy 92
 
Gene (location): GABRB2 (5q34)
 
Monarch Initiative: MONDO:0020631
OMIM®: 617829

Definition

Developmental and epileptic encephalopathy-92 (DEE92) is characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable impairment of intellectual development. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by Hamdan et al., 2017). For 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.
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).
Dyskinesia
MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Lethargy
MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
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.
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.
Inability to walk
MedGen UID:
107860
Concept ID:
C0560046
Finding
Incapability to ambulate.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
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.
Difficulty walking
MedGen UID:
86319
Concept ID:
C0311394
Finding
Reduced ability to walk (ambulate).
Secondary microcephaly
MedGen UID:
608952
Concept ID:
C0431352
Finding
Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.
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

Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R
Epilepsia 2022 Jun;63(6):1349-1397. Epub 2022 May 3 doi: 10.1111/epi.17239. PMID: 35503712
Wirrell EC, Hood V, Knupp KG, Meskis MA, Nabbout R, Scheffer IE, Wilmshurst J, Sullivan J
Epilepsia 2022 Jul;63(7):1761-1777. Epub 2022 May 12 doi: 10.1111/epi.17274. PMID: 35490361Free PMC Article
Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad MH, Silverstein JH, Yanovski JA
J Clin Endocrinol Metab 2017 Mar 1;102(3):709-757. doi: 10.1210/jc.2016-2573. PMID: 28359099Free PMC Article

Recent clinical studies

Etiology

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
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R
Epilepsia 2022 Jun;63(6):1349-1397. Epub 2022 May 3 doi: 10.1111/epi.17239. PMID: 35503712
Wirrell EC, Hood V, Knupp KG, Meskis MA, Nabbout R, Scheffer IE, Wilmshurst J, Sullivan J
Epilepsia 2022 Jul;63(7):1761-1777. Epub 2022 May 12 doi: 10.1111/epi.17274. PMID: 35490361Free PMC Article
Gaston TE, Szaflarski JP
Curr Neurol Neurosci Rep 2018 Sep 8;18(11):73. doi: 10.1007/s11910-018-0882-y. PMID: 30194563
Hirsch LJ, Gaspard N, van Baalen A, Nabbout R, Demeret S, Loddenkemper T, Navarro V, Specchio N, Lagae L, Rossetti AO, Hocker S, Gofton TE, Abend NS, Gilmore EJ, Hahn C, Khosravani H, Rosenow F, Trinka E
Epilepsia 2018 Apr;59(4):739-744. Epub 2018 Feb 5 doi: 10.1111/epi.14016. PMID: 29399791

Diagnosis

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
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R
Epilepsia 2022 Jun;63(6):1349-1397. Epub 2022 May 3 doi: 10.1111/epi.17239. PMID: 35503712
Samanta D
Epilepsy Behav 2022 May;130:108678. Epub 2022 Apr 14 doi: 10.1016/j.yebeh.2022.108678. PMID: 35429726
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Messer R, Knupp KG
Semin Neurol 2020 Apr;40(2):236-245. Epub 2020 Mar 6 doi: 10.1055/s-0040-1705121. PMID: 32143232

Therapy

Elkommos S, Mula M
Expert Opin Pharmacother 2022 Dec;23(18):2023-2034. Epub 2022 Sep 27 doi: 10.1080/14656566.2022.2128670. PMID: 36154780
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R
Epilepsia 2022 Jun;63(6):1349-1397. Epub 2022 May 3 doi: 10.1111/epi.17239. PMID: 35503712
Strzelczyk A, Schubert-Bast S
CNS Drugs 2022 Mar;36(3):217-237. Epub 2022 Feb 14 doi: 10.1007/s40263-022-00898-1. PMID: 35156171Free PMC Article
Gaston TE, Szaflarski JP
Curr Neurol Neurosci Rep 2018 Sep 8;18(11):73. doi: 10.1007/s11910-018-0882-y. PMID: 30194563
Devinsky O, Cilio MR, Cross H, Fernandez-Ruiz J, French J, Hill C, Katz R, Di Marzo V, Jutras-Aswad D, Notcutt WG, Martinez-Orgado J, Robson PJ, Rohrback BG, Thiele E, Whalley B, Friedman D
Epilepsia 2014 Jun;55(6):791-802. Epub 2014 May 22 doi: 10.1111/epi.12631. PMID: 24854329Free PMC Article

Prognosis

Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R
Epilepsia 2022 Jun;63(6):1349-1397. Epub 2022 May 3 doi: 10.1111/epi.17239. PMID: 35503712
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Pavone P, Polizzi A, Marino SD, Corsello G, Falsaperla R, Marino S, Ruggieri M
Neurol Sci 2020 Dec;41(12):3547-3562. Epub 2020 Aug 22 doi: 10.1007/s10072-020-04600-5. PMID: 32827285Free PMC Article
Reynolds C, King MD, Gorman KM
Eur J Paediatr Neurol 2020 Jan;24:117-122. Epub 2019 Dec 12 doi: 10.1016/j.ejpn.2019.12.016. PMID: 31924505

Clinical prediction guides

Hahn CD, Jiang Y, Villanueva V, Zolnowska M, Arkilo D, Hsiao S, Asgharnejad M, Dlugos D
Epilepsia 2022 Oct;63(10):2671-2683. Epub 2022 Aug 4 doi: 10.1111/epi.17367. PMID: 35841234Free PMC Article
Hong W, Haviland I, Pestana-Knight E, Weisenberg JL, Demarest S, Marsh ED, Olson HE
CNS Drugs 2022 Jun;36(6):591-604. Epub 2022 May 28 doi: 10.1007/s40263-022-00921-5. PMID: 35633486Free PMC Article
Lattanzi S, Leitinger M, Rocchi C, Salvemini S, Matricardi S, Brigo F, Meletti S, Trinka E
Eur J Neurol 2022 Feb;29(2):626-647. Epub 2021 Nov 2 doi: 10.1111/ene.15149. PMID: 34661330Free PMC Article
Reynolds C, King MD, Gorman KM
Eur J Paediatr Neurol 2020 Jan;24:117-122. Epub 2019 Dec 12 doi: 10.1016/j.ejpn.2019.12.016. PMID: 31924505
Jambaqué I, Pinabiaux C, Lassonde M
Handb Clin Neurol 2013;111:691-5. doi: 10.1016/B978-0-444-52891-9.00071-3. PMID: 23622216

Recent systematic reviews

Lam PPY, Chua H, Ekambaram M, Lo ECM, Yiu CKY
J Evid Based Dent Pract 2022 Sep;22(3):101732. Epub 2022 Apr 29 doi: 10.1016/j.jebdp.2022.101732. PMID: 36162891
Uribe SE, Innes N, Maldupa I
Int J Paediatr Dent 2021 Nov;31(6):817-830. Epub 2021 Apr 30 doi: 10.1111/ipd.12783. PMID: 33735529
Lombardo G, Vena F, Negri P, Pagano S, Barilotti C, Paglia L, Colombo S, Orso M, Cianetti S
Eur J Paediatr Dent 2020 Jun;21(2):115-122. doi: 10.23804/ejpd.2020.21.02.05. PMID: 32567942
Fang K, Mu M, Liu K, He Y
Child Care Health Dev 2019 Sep;45(5):744-753. Epub 2019 Jul 24 doi: 10.1111/cch.12701. PMID: 31270831
Bleich SN, Vercammen KA, Zatz LY, Frelier JM, Ebbeling CB, Peeters A
Lancet Diabetes Endocrinol 2018 Apr;6(4):332-346. Epub 2017 Oct 20 doi: 10.1016/S2213-8587(17)30358-3. PMID: 29066096

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