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Developmental and epileptic encephalopathy 106(DEE106)

MedGen UID:
1823985
•Concept ID:
C5774212
•
Disease or Syndrome
Synonym: DEE106
 
Gene (location): UFSP2 (4q35.1)
 
Monarch Initiative: MONDO:0031052
OMIM®: 620028

Definition

Developmental and epileptic encephalopathy-106 (DEE106) is an autosomal recessive disorder characterized by the onset of various types of frequent, often refractory, seizures within the first year of life. Affected individuals demonstrate profound global developmental delay with limited ability to move and severely impaired intellectual development with absent speech. Nonspecific brain abnormalities may be observed on MRI (Ni et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Clinical features

From HPO
Limb hypertonia
MedGen UID:
333083
•Concept ID:
C1838391
•
Finding
See: Feature record | Search on this feature
Postnatal growth retardation
MedGen UID:
395343
•Concept ID:
C1859778
•
Finding
Slow or limited growth after birth.
See: Feature record | Search on this feature
Cerebellar hypoplasia
MedGen UID:
120578
•Concept ID:
C0266470
•
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
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
Focal clonic seizure
MedGen UID:
155749
•Concept ID:
C0752323
•
Disease or Syndrome
A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
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
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
Infantile spasms
MedGen UID:
854616
•Concept ID:
C3887898
•
Disease or Syndrome
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
See: Feature record | Search on this feature
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.
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
Esotropia
MedGen UID:
4550
•Concept ID:
C0014877
•
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
See: Feature record | Search on this feature
Exotropia
MedGen UID:
4613
•Concept ID:
C0015310
•
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
See: Feature record | Search on this feature
Esodeviation
MedGen UID:
1641033
•Concept ID:
C4551734
•
Disease or Syndrome
A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

GRIN2A-related disorders: genotype and functional consequence predict phenotype.
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Brain 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. PMID: 30544257Free PMC Article

Recent clinical studies

Etiology

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Mohammadi NA, Ahring PK, Yu Liao VW, Chua HC, Ortiz de la Rosa S, Johannesen KM, Michaeli-Yossef Y, Vincent-Devulder A, Meridda C, Bruel AL, Rossi A, Patel C, Klepper J, Bonanni P, Minghetti S, Trivisano M, Specchio N, Amor D, Auvin S, Baer S, Meyer P, Milh M, Salpietro V, Maroofian R, Lemke JR, Weckhuysen S, Christophersen P, Rubboli G, Chebib M, Jensen AA, Absalom NL, Møller RS
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The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy.
Whitney R, Choi E, Jones KC
Seizure 2023 Mar;106:8-13. Epub 2023 Jan 23 doi: 10.1016/j.seizure.2023.01.014. PMID: 36701889
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.
Knupp KG, Scheffer IE, Ceulemans B, Sullivan J, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Agarwal A, Lock M, Dai D, Farfel GM, Galer BS, Gammaitoni AR, Polega S, Davis R, Gil-Nagel A
Epilepsia 2023 Jan;64(1):139-151. Epub 2022 Nov 9 doi: 10.1111/epi.17431. PMID: 36196777Free PMC Article
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group
Brain 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. PMID: 30544257Free PMC Article

Diagnosis

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Mohammadi NA, Ahring PK, Yu Liao VW, Chua HC, Ortiz de la Rosa S, Johannesen KM, Michaeli-Yossef Y, Vincent-Devulder A, Meridda C, Bruel AL, Rossi A, Patel C, Klepper J, Bonanni P, Minghetti S, Trivisano M, Specchio N, Amor D, Auvin S, Baer S, Meyer P, Milh M, Salpietro V, Maroofian R, Lemke JR, Weckhuysen S, Christophersen P, Rubboli G, Chebib M, Jensen AA, Absalom NL, Møller RS
EBioMedicine 2024 Aug;106:105236. Epub 2024 Jul 11 doi: 10.1016/j.ebiom.2024.105236. PMID: 38996765Free PMC Article
The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy.
Whitney R, Choi E, Jones KC
Seizure 2023 Mar;106:8-13. Epub 2023 Jan 23 doi: 10.1016/j.seizure.2023.01.014. PMID: 36701889
Phenotypic and Imaging Spectrum Associated With WDR45.
Adang LA, Pizzino A, Malhotra A, Dubbs H, Williams C, Sherbini O, Anttonen AK, Lesca G, Linnankivi T, Laurencin C, Milh M, Perrine C, Schaaf CP, Poulat AL, Ville D, Hagelstrom T, Perry DL, Taft RJ, Goldstein A, Vossough A, Helbig I, Vanderver A
Pediatr Neurol 2020 Aug;109:56-62. Epub 2020 Mar 11 doi: 10.1016/j.pediatrneurol.2020.03.005. PMID: 32387008Free PMC Article
FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms.
Wong LC, Singh S, Wang HP, Hsu CJ, Hu SC, Lee WT
Int J Mol Sci 2019 Aug 26;20(17) doi: 10.3390/ijms20174176. PMID: 31454984Free PMC Article
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N
Nat Commun 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. PMID: 31175295Free PMC Article

Therapy

Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis.
Arfaie S, Amin P, Kwan ATH, Solgi A, Sarabi A, Hakak-Zargar B, Brunette-Clément T, Pushenko D, Mir-Moghtadaei K, Mashayekhi MS, Mofatteh M, Honarvar F, Ren LY, Noiseux-Lush C, Azizi Z, Pearl PL, Baldeweg T, Weil AG, Fallah A
Seizure 2023 Mar;106:58-67. Epub 2023 Feb 1 doi: 10.1016/j.seizure.2023.01.020. PMID: 36774775
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.
Knupp KG, Scheffer IE, Ceulemans B, Sullivan J, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Agarwal A, Lock M, Dai D, Farfel GM, Galer BS, Gammaitoni AR, Polega S, Davis R, Gil-Nagel A
Epilepsia 2023 Jan;64(1):139-151. Epub 2022 Nov 9 doi: 10.1111/epi.17431. PMID: 36196777Free PMC Article
First-line medication dosing in pediatric refractory status epilepticus.
Vasquez A, Gaínza-Lein M, Abend NS, Amengual-Gual M, Anderson A, Arya R, Brenton JN, Carpenter JL, Chapman K, Clark J, Farias-Moeller R, Gaillard WD, Glauser T, Goldstein JL, Goodkin HP, Guerriero RM, Kapur K, Lai YC, McDonough TL, Mikati MA, Morgan LA, Novotny EJ, Ostendorf AP, Payne ET, Peariso K, Piantino J, Riviello JJ, Sannagowdara K, Tasker RC, Tchapyjnikov D, Topjian A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG)
Neurology 2020 Nov 10;95(19):e2683-e2696. Epub 2020 Sep 10 doi: 10.1212/WNL.0000000000010828. PMID: 32913024Free PMC Article
Behavioral outcomes in children exposed prenatally to lamotrigine, valproate, or carbamazepine.
Deshmukh U, Adams J, Macklin EA, Dhillon R, McCarthy KD, Dworetzky B, Klein A, Holmes LB
Neurotoxicol Teratol 2016 Mar-Apr;54:5-14. Epub 2016 Jan 12 doi: 10.1016/j.ntt.2016.01.001. PMID: 26791321Free PMC Article
Long-term developmental outcome of children of women with epilepsy, unexposed or exposed prenatally to antiepileptic drugs: a meta-analysis of cohort studies.
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

Prognosis

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Mohammadi NA, Ahring PK, Yu Liao VW, Chua HC, Ortiz de la Rosa S, Johannesen KM, Michaeli-Yossef Y, Vincent-Devulder A, Meridda C, Bruel AL, Rossi A, Patel C, Klepper J, Bonanni P, Minghetti S, Trivisano M, Specchio N, Amor D, Auvin S, Baer S, Meyer P, Milh M, Salpietro V, Maroofian R, Lemke JR, Weckhuysen S, Christophersen P, Rubboli G, Chebib M, Jensen AA, Absalom NL, Møller RS
EBioMedicine 2024 Aug;106:105236. Epub 2024 Jul 11 doi: 10.1016/j.ebiom.2024.105236. PMID: 38996765Free PMC Article
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K
Brain 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. PMID: 38456468Free PMC Article
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S
Am J Hum Genet 2021 Jul 1;108(7):1330-1341. Epub 2021 Jun 7 doi: 10.1016/j.ajhg.2021.05.007. PMID: 34102099Free PMC Article
First-line medication dosing in pediatric refractory status epilepticus.
Vasquez A, Gaínza-Lein M, Abend NS, Amengual-Gual M, Anderson A, Arya R, Brenton JN, Carpenter JL, Chapman K, Clark J, Farias-Moeller R, Gaillard WD, Glauser T, Goldstein JL, Goodkin HP, Guerriero RM, Kapur K, Lai YC, McDonough TL, Mikati MA, Morgan LA, Novotny EJ, Ostendorf AP, Payne ET, Peariso K, Piantino J, Riviello JJ, Sannagowdara K, Tasker RC, Tchapyjnikov D, Topjian A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG)
Neurology 2020 Nov 10;95(19):e2683-e2696. Epub 2020 Sep 10 doi: 10.1212/WNL.0000000000010828. PMID: 32913024Free PMC Article
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group
Brain 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. PMID: 30544257Free PMC Article

Clinical prediction guides

Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network, van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P
Hum Mol Genet 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. PMID: 37552066Free PMC Article
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.
Knupp KG, Scheffer IE, Ceulemans B, Sullivan J, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Agarwal A, Lock M, Dai D, Farfel GM, Galer BS, Gammaitoni AR, Polega S, Davis R, Gil-Nagel A
Epilepsia 2023 Jan;64(1):139-151. Epub 2022 Nov 9 doi: 10.1111/epi.17431. PMID: 36196777Free PMC Article
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S
Am J Hum Genet 2021 Jul 1;108(7):1330-1341. Epub 2021 Jun 7 doi: 10.1016/j.ajhg.2021.05.007. PMID: 34102099Free PMC Article
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N
Nat Commun 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. PMID: 31175295Free PMC Article
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group
Brain 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. PMID: 30544257Free PMC Article

Recent systematic reviews

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.
Mastrangelo M, Manti F, Ricciardi G, Cinnante EMC, Cameli N, Beatrice A, Tolve M, Pisani F
Eur J Pediatr 2024 Sep;183(9):3665-3678. Epub 2024 Jul 2 doi: 10.1007/s00431-024-05657-6. PMID: 38954008Free PMC Article
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
Cutillo G, Masnada S, Lesca G, Ville D, Accorsi P, Giordano L, Pichiecchio A, Valente M, Borrelli P, Ferraro OE, Veggiotti P
Epilepsia Open 2024 Feb;9(1):106-121. Epub 2023 Nov 27 doi: 10.1002/epi4.12837. PMID: 37842880Free PMC Article
Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis.
Arfaie S, Amin P, Kwan ATH, Solgi A, Sarabi A, Hakak-Zargar B, Brunette-Clément T, Pushenko D, Mir-Moghtadaei K, Mashayekhi MS, Mofatteh M, Honarvar F, Ren LY, Noiseux-Lush C, Azizi Z, Pearl PL, Baldeweg T, Weil AG, Fallah A
Seizure 2023 Mar;106:58-67. Epub 2023 Feb 1 doi: 10.1016/j.seizure.2023.01.020. PMID: 36774775
Long-term developmental outcome of children of women with epilepsy, unexposed or exposed prenatally to antiepileptic drugs: a meta-analysis of cohort studies.
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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