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Developmental and epileptic encephalopathy, 34(DEE34)

MedGen UID:
899149
•Concept ID:
C4225257
•
Disease or Syndrome
Synonyms: DEE34; Early infantile epileptic encephalopathy 34
 
Gene (location): SLC12A5 (20q13.12)
 
Monarch Initiative: MONDO:0014718
OMIM®: 616645

Disease characteristics

Excerpted from the GeneReview: SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures
SLC12A5-related epilepsy of infancy with migrating focal seizures (SLC12A5-EIMFS), reported to date in nine children, is characterized by onset of seizures before age six months and either developmental delay or developmental regression with seizure onset. Of these nine children, six had severe developmental delay with no progress of abilities and three made notable neurodevelopmental progress. Eight had postnatal microcephaly and hypotonia. In most children epilepsy begins as focal motor seizures (typically involving head and eye deviation) that become multifocal and intractable to conventional anti-seizure medication (ASM). [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Amy McTague  |  Manju A Kurian   view full author information

Additional description

From OMIM
Developmental and epileptic encephalopathy-34 (DEE34) is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in the first year of life after normal early development. Affected children show developmental regression and are severely impaired globally (summary by Stodberg et al., 2015). For a discussion of genetic heterogeneity of DEE, see 308350.  http://www.omim.org/entry/616645

Clinical features

From HPO
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.
See: Feature record | Search on this feature
Status epilepticus
MedGen UID:
11586
•Concept ID:
C0038220
•
Disease or Syndrome
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
See: Feature record | Search on this feature
Abnormal pyramidal sign
MedGen UID:
68582
•Concept ID:
C0234132
•
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
See: Feature record | Search on this feature
Cerebral atrophy
MedGen UID:
116012
•Concept ID:
C0235946
•
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Inability to walk
MedGen UID:
107860
•Concept ID:
C0560046
•
Finding
Incapability to ambulate.
See: Feature record | Search on this feature
Focal-onset seizure
MedGen UID:
199670
•Concept ID:
C0751495
•
Disease or Syndrome
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
See: Feature record | Search on this feature
Bilateral tonic-clonic seizure with focal onset
MedGen UID:
164077
•Concept ID:
C0877017
•
Disease or Syndrome
A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.
See: Feature record | Search on this feature
Developmental regression
MedGen UID:
324613
•Concept ID:
C1836830
•
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
See: Feature record | Search on this feature
Focal hemiclonic seizure
MedGen UID:
335477
•Concept ID:
C1846620
•
Disease or Syndrome
A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Delayed CNS myelination
MedGen UID:
867393
•Concept ID:
C4021758
•
Anatomical Abnormality
Delayed myelination in the central nervous system.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Excessive salivation
MedGen UID:
11419
•Concept ID:
C0037036
•
Disease or Syndrome
Excessive production of saliva.
See: Feature record | Search on this feature
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PubMed

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Diagnosis

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Prognosis

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Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche H, Møller RS
Brain 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. PMID: 34431999Free PMC Article
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R
Epilepsia 2020 Nov;61(11):2461-2473. Epub 2020 Sep 21 doi: 10.1111/epi.16679. PMID: 32954514
Incidence and Prevalence of Childhood Epilepsy: A Nationwide Cohort Study.
Aaberg KM, Gunnes N, Bakken IJ, Lund Søraas C, Berntsen A, Magnus P, Lossius MI, Stoltenberg C, Chin R, Surén P
Pediatrics 2017 May;139(5) Epub 2017 Apr 5 doi: 10.1542/peds.2016-3908. PMID: 28557750

Clinical prediction guides

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N
Genome Med 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. PMID: 35468861Free PMC Article
Long-term safety and efficacy of add-on cannabidiol in patients with Lennox-Gastaut syndrome: Results of a long-term open-label extension trial.
Patel AD, Mazurkiewicz-Bełdzińska M, Chin RF, Gil-Nagel A, Gunning B, Halford JJ, Mitchell W, Scott Perry M, Thiele EA, Weinstock A, Dunayevich E, Checketts D, Devinsky O
Epilepsia 2021 Sep;62(9):2228-2239. Epub 2021 Jul 20 doi: 10.1111/epi.17000. PMID: 34287833
Safety of Early Discontinuation of Antiseizure Medication After Acute Symptomatic Neonatal Seizures.
Glass HC, Soul JS, Chang T, Wusthoff CJ, Chu CJ, Massey SL, Abend NS, Lemmon M, Thomas C, Numis AL, Guillet R, Sturza J, McNamara NA, Rogers EE, Franck LS, McCulloch CE, Shellhaas RA
JAMA Neurol 2021 Jul 1;78(7):817-825. doi: 10.1001/jamaneurol.2021.1437. PMID: 34028496Free PMC Article
Different Clinical Expression of Anxiety Disorders in Children and Adolescents: Assessment and Treatment.
Pop-Jordanova N
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2019 May 1;40(1):5-40. doi: 10.2478/prilozi-2019-0001. PMID: 31152643
Incidence and Prevalence of Childhood Epilepsy: A Nationwide Cohort Study.
Aaberg KM, Gunnes N, Bakken IJ, Lund Søraas C, Berntsen A, Magnus P, Lossius MI, Stoltenberg C, Chin R, Surén P
Pediatrics 2017 May;139(5) Epub 2017 Apr 5 doi: 10.1542/peds.2016-3908. PMID: 28557750

Recent systematic reviews

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Chapman KE, Haubenberger D, Jen E, Tishchenko A, Nguyen T, McMicken C
Epilepsy Res 2024 Jan;199:107278. Epub 2023 Dec 8 doi: 10.1016/j.eplepsyres.2023.107278. PMID: 38157757
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.
Srivastava S, Lewis SA, Cohen JS, Zhang B, Aravamuthan BR, Chopra M, Sahin M, Kruer MC, Poduri A
JAMA Neurol 2022 Dec 1;79(12):1287-1295. doi: 10.1001/jamaneurol.2022.3549. PMID: 36279113Free PMC Article
Sleep disruption in children and adolescents with epilepsy: A systematic review and meta-analysis.
Winsor AA, Richards C, Bissell S, Seri S, Liew A, Bagshaw AP
Sleep Med Rev 2021 Jun;57:101416. Epub 2021 Jan 19 doi: 10.1016/j.smrv.2021.101416. PMID: 33561679
Hemispherectomy for treatment of refractory epilepsy in the pediatric age group: a systematic review.
Griessenauer CJ, Salam S, Hendrix P, Patel DM, Tubbs RS, Blount JP, Winkler PA
J Neurosurg Pediatr 2015 Jan;15(1):34-44. doi: 10.3171/2014.10.PEDS14155. PMID: 25380174
Epilepsy-related clinical characteristics and mortality: a systematic review and meta-analysis.
Nevalainen O, Ansakorpi H, Simola M, Raitanen J, Isojärvi J, Artama M, Auvinen A
Neurology 2014 Nov 18;83(21):1968-77. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000001005. PMID: 25339211

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