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Developmental and epileptic encephalopathy, 86(EIEE86; DEE86)

MedGen UID:
1711964
•Concept ID:
C5394462
•
Disease or Syndrome
Synonym: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86
 
Gene (location): DALRD3 (3p21.31)
 
Monarch Initiative: MONDO:0030054
OMIM®: 618910

Definition

Developmental and epileptic encephalopathy-86 (DEE86) is an X-linked neurologic syndrome characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features (Lentini et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Clinical features

From HPO
Small for gestational age
MedGen UID:
65920
•Concept ID:
C0235991
•
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
See: Feature record | Search on this feature
Gastrostomy tube feeding in infancy
MedGen UID:
892362
•Concept ID:
C4023342
•
Finding
Feeding problem necessitating gastrostomy tube feeding.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Absent speech
MedGen UID:
340737
•Concept ID:
C1854882
•
Finding
Complete lack of development of speech and language abilities.
See: Feature record | Search on this feature
CNS hypomyelination
MedGen UID:
892446
•Concept ID:
C4025616
•
Finding
Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Generalized amyotrophy
MedGen UID:
234650
•Concept ID:
C1389113
•
Disease or Syndrome
Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
See: Feature record | Search on this feature
Generalized hypotonia
MedGen UID:
346841
•Concept ID:
C1858120
•
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Oligohydramnios
MedGen UID:
86974
•Concept ID:
C0079924
•
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies-a Study in a Tertiary Epilepsy Center.
Bayat A, Fenger CD, Techlo TR, Højte AF, Nørgaard I, Hansen TF, Rubboli G, Møller RS, Group DCCRS
Neurotherapeutics 2022 Jul;19(4):1353-1367. Epub 2022 Jun 20 doi: 10.1007/s13311-022-01264-1. PMID: 35723786Free PMC Article
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.
Olson HE, Daniels CI, Haviland I, Swanson LC, Greene CA, Denny AMM, Demarest ST, Pestana-Knight E, Zhang X, Moosa AN, Fidell A, Weisenberg JL, Suter B, Fu C, Neul JL, Percy AK, Marsh ED, Benke TA, Poduri A
J Neurodev Disord 2021 Sep 16;13(1):40. doi: 10.1186/s11689-021-09384-z. PMID: 34530725Free PMC Article
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR
J Med Genet 2017 Jul;54(7):460-470. Epub 2017 Apr 4 doi: 10.1136/jmedgenet-2016-104509. PMID: 28377535Free PMC Article

Recent clinical studies

Etiology

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.
Knight EMP, Amin S, Bahi-Buisson N, Benke TA, Cross JH, Demarest ST, Olson HE, Specchio N, Fleming TR, Aimetti AA, Gasior M, Devinsky O; Marigold Trial Group
Lancet Neurol 2022 May;21(5):417-427. doi: 10.1016/S1474-4422(22)00077-1. PMID: 35429480
Neonatal stroke: Clinical characteristics and neurodevelopmental outcomes.
Elgendy MM, Puthuraya S, LoPiccolo C, Liu W, Aly H, Karnati S
Pediatr Neonatol 2022 Jan;63(1):41-47. Epub 2021 Aug 28 doi: 10.1016/j.pedneo.2021.06.017. PMID: 34509386
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
Moreno-De-Luca A, Millan F, Pesacreta DR, Elloumi HZ, Oetjens MT, Teigen C, Wain KE, Scuffins J, Myers SM, Torene RI, Gainullin VG, Arvai K, Kirchner HL, Ledbetter DH, Retterer K, Martin CL
JAMA 2021 Feb 2;325(5):467-475. doi: 10.1001/jama.2020.26148. PMID: 33528536Free PMC Article
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE
Ann Neurol 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. PMID: 31618474Free PMC Article
Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial.
Thiele EA, Marsh ED, French JA, Mazurkiewicz-Beldzinska M, Benbadis SR, Joshi C, Lyons PD, Taylor A, Roberts C, Sommerville K; GWPCARE4 Study Group
Lancet 2018 Mar 17;391(10125):1085-1096. Epub 2018 Jan 26 doi: 10.1016/S0140-6736(18)30136-3. PMID: 29395273

Diagnosis

Neonatal stroke: Clinical characteristics and neurodevelopmental outcomes.
Elgendy MM, Puthuraya S, LoPiccolo C, Liu W, Aly H, Karnati S
Pediatr Neonatol 2022 Jan;63(1):41-47. Epub 2021 Aug 28 doi: 10.1016/j.pedneo.2021.06.017. PMID: 34509386
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
Moreno-De-Luca A, Millan F, Pesacreta DR, Elloumi HZ, Oetjens MT, Teigen C, Wain KE, Scuffins J, Myers SM, Torene RI, Gainullin VG, Arvai K, Kirchner HL, Ledbetter DH, Retterer K, Martin CL
JAMA 2021 Feb 2;325(5):467-475. doi: 10.1001/jama.2020.26148. PMID: 33528536Free PMC Article
Antenatal diagnosis of fetal intraventricular hemorrhage: systematic review and meta-analysis.
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
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE
Ann Neurol 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. PMID: 31618474Free PMC Article
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR
J Med Genet 2017 Jul;54(7):460-470. Epub 2017 Apr 4 doi: 10.1136/jmedgenet-2016-104509. PMID: 28377535Free PMC Article

Therapy

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.
Knight EMP, Amin S, Bahi-Buisson N, Benke TA, Cross JH, Demarest ST, Olson HE, Specchio N, Fleming TR, Aimetti AA, Gasior M, Devinsky O; Marigold Trial Group
Lancet Neurol 2022 May;21(5):417-427. doi: 10.1016/S1474-4422(22)00077-1. PMID: 35429480
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.
Olson HE, Daniels CI, Haviland I, Swanson LC, Greene CA, Denny AMM, Demarest ST, Pestana-Knight E, Zhang X, Moosa AN, Fidell A, Weisenberg JL, Suter B, Fu C, Neul JL, Percy AK, Marsh ED, Benke TA, Poduri A
J Neurodev Disord 2021 Sep 16;13(1):40. doi: 10.1186/s11689-021-09384-z. PMID: 34530725Free PMC Article
In search of antiepileptogenic treatments for post-traumatic epilepsy.
Saletti PG, Ali I, Casillas-Espinosa PM, Semple BD, Lisgaras CP, Moshé SL, Galanopoulou AS
Neurobiol Dis 2019 Mar;123:86-99. Epub 2018 Jun 22 doi: 10.1016/j.nbd.2018.06.017. PMID: 29936231Free PMC Article
Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial.
Thiele EA, Marsh ED, French JA, Mazurkiewicz-Beldzinska M, Benbadis SR, Joshi C, Lyons PD, Taylor A, Roberts C, Sommerville K; GWPCARE4 Study Group
Lancet 2018 Mar 17;391(10125):1085-1096. Epub 2018 Jan 26 doi: 10.1016/S0140-6736(18)30136-3. PMID: 29395273
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR
J Med Genet 2017 Jul;54(7):460-470. Epub 2017 Apr 4 doi: 10.1136/jmedgenet-2016-104509. PMID: 28377535Free PMC Article

Prognosis

Angioarchitecture and prognosis of pediatric intracranial pial arteriovenous fistula.
Li J, Ji Z, Yu J, Ren J, Yang F, Bian L, Zhi X, Li G, Zhang H
Stroke Vasc Neurol 2023 Aug;8(4):292-300. Epub 2023 Jan 6 doi: 10.1136/svn-2022-001979. PMID: 36609545Free PMC Article
Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.
Yang S, Yang LM, Liao HM, Fang HJ, Ning ZS, Liao CS, Wu LW
Neurol Sci 2022 Aug;43(8):5039-5048. Epub 2022 Mar 29 doi: 10.1007/s10072-022-06038-3. PMID: 35352205
Development and Validation of Prediction Models for Developmental and Intellectual Outcome Following Pediatric Epilepsy Surgery.
Cloppenborg T, van Schooneveld M, Hagemann A, Hopf JL, Kalbhenn T, Otte WM, Polster T, Bien CG, Braun KPJ
Neurology 2022 Jan 18;98(3):e225-e235. Epub 2021 Nov 18 doi: 10.1212/WNL.0000000000013065. PMID: 34795046
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S, De Liso P, Freri E, Costa P, Castellotti B, Magri S, Gellera C, Granata T, Musante L, Lesca G, Oertel J, Craiu D, Hammer TB, Møller RS, Barisic N, Abou Jamra R, Polster T, Vigevano F, Marini C
Epilepsia 2020 Nov;61(11):2474-2485. Epub 2020 Oct 16 doi: 10.1111/epi.16699. PMID: 33063863
Developmental outcomes in children/adolescents and one adult with tuberous sclerosis complex (TSC) and refractory epilepsy treated with everolimus.
Kadish NE, Riedel C, Stephani U, Wiegand G
Epilepsy Behav 2020 Oct;111:107182. Epub 2020 Jun 11 doi: 10.1016/j.yebeh.2020.107182. PMID: 32535369

Clinical prediction guides

Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.
Yang S, Yang LM, Liao HM, Fang HJ, Ning ZS, Liao CS, Wu LW
Neurol Sci 2022 Aug;43(8):5039-5048. Epub 2022 Mar 29 doi: 10.1007/s10072-022-06038-3. PMID: 35352205
Development and Validation of Prediction Models for Developmental and Intellectual Outcome Following Pediatric Epilepsy Surgery.
Cloppenborg T, van Schooneveld M, Hagemann A, Hopf JL, Kalbhenn T, Otte WM, Polster T, Bien CG, Braun KPJ
Neurology 2022 Jan 18;98(3):e225-e235. Epub 2021 Nov 18 doi: 10.1212/WNL.0000000000013065. PMID: 34795046
Neonatal stroke: Clinical characteristics and neurodevelopmental outcomes.
Elgendy MM, Puthuraya S, LoPiccolo C, Liu W, Aly H, Karnati S
Pediatr Neonatol 2022 Jan;63(1):41-47. Epub 2021 Aug 28 doi: 10.1016/j.pedneo.2021.06.017. PMID: 34509386
Female mice lacking ERβ display excitatory/inhibitory synaptic imbalance to drive the pathogenesis of temporal lobe epilepsy.
Wang Z, Xie R, Yang X, Yin H, Li X, Liu T, Ma Y, Gao J, Zang Z, Ruan R, Li Y, Huang K, Chen Q, Shen K, Lv S, Zhang C, Yang H, Warner M, Gustafsson JA, Liu S, Fan X
Theranostics 2021;11(12):6074-6089. Epub 2021 Apr 7 doi: 10.7150/thno.56331. PMID: 33897900Free PMC Article
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE
Ann Neurol 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. PMID: 31618474Free PMC Article

Recent systematic reviews

Peri-Insular Hemispherotomy: A Systematic Review and Institutional Experience.
Yates CF, Malone S, Riney K, Shah U, Wood MJ
Pediatr Neurosurg 2023;58(1):18-28. Epub 2023 Jan 13 doi: 10.1159/000529098. PMID: 36693334Free PMC Article
Temporal lobe epilepsy with amygdala enlargement: A systematic review.
Chakravarty K, Ray S, Kharbanda PS, Lal V, Baishya J
Acta Neurol Scand 2021 Sep;144(3):236-250. Epub 2021 May 13 doi: 10.1111/ane.13455. PMID: 33987835
Antenatal diagnosis of fetal intraventricular hemorrhage: systematic review and meta-analysis.
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
Intellectual functioning and behavior in Dravet syndrome: A systematic review.
Jansson JS, Hallböök T, Reilly C
Epilepsy Behav 2020 Jul;108:107079. Epub 2020 Apr 22 doi: 10.1016/j.yebeh.2020.107079. PMID: 32334365

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      Related records in OMIM
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