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Early Infantile Epileptic Encephalopathy, Autosomal Dominant

MedGen UID:
893410
•Concept ID:
CN239232
•
Disease or Syndrome

Recent clinical studies

Etiology

The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M, Al Qahtani XS, Almakdob S, Altwaijri W, Ba-Armah DM, Hundallah K, Al Hashem A, Al Tala S, Maddirevula S, Alkuraya FS, Tabarki B, Alfadhel M
Seizure 2019 Jul;69:154-172. Epub 2019 Apr 27 doi: 10.1016/j.seizure.2019.04.018. PMID: 31054490
Novel West syndrome candidate genes in a Chinese cohort.
Peng J, Wang Y, He F, Chen C, Wu LW, Yang LF, Ma YP, Zhang W, Shi ZQ, Chen C, Xia K, Guo H, Yin F, Pang N
CNS Neurosci Ther 2018 Dec;24(12):1196-1206. Epub 2018 Apr 17 doi: 10.1111/cns.12860. PMID: 29667327Free PMC Article

Diagnosis

A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy.
Blakes AJM, English J, Banka S, Basu H
Am J Med Genet A 2022 Feb;188(2):595-599. Epub 2021 Oct 6 doi: 10.1002/ajmg.a.62528. PMID: 34611970
De novo frameshift variants of HNRNPU in patients with early infantile epileptic encephalopathy: Two case reports and literature review.
Song Z, Zhang Y, Yang C, Yi Z, Li F, Xue J, Yang X, Li B
Int J Dev Neurosci 2021 Nov;81(7):663-668. Epub 2021 Jun 16 doi: 10.1002/jdn.10115. PMID: 33914968
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M, Al Qahtani XS, Almakdob S, Altwaijri W, Ba-Armah DM, Hundallah K, Al Hashem A, Al Tala S, Maddirevula S, Alkuraya FS, Tabarki B, Alfadhel M
Seizure 2019 Jul;69:154-172. Epub 2019 Apr 27 doi: 10.1016/j.seizure.2019.04.018. PMID: 31054490
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.
Bonzanni M, DiFrancesco JC, Milanesi R, Campostrini G, Castellotti B, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Rivolta I, Gellera C, Granata T, Barbuti A, DiFrancesco D
Neurobiol Dis 2018 Oct;118:55-63. Epub 2018 Jun 21 doi: 10.1016/j.nbd.2018.06.012. PMID: 29936235
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
Hewson S, Puka K, Mercimek-Mahmutoglu S
Am J Med Genet A 2017 Aug;173(8):2226-2230. Epub 2017 Jun 11 doi: 10.1002/ajmg.a.38281. PMID: 28602030

Prognosis

A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy.
Blakes AJM, English J, Banka S, Basu H
Am J Med Genet A 2022 Feb;188(2):595-599. Epub 2021 Oct 6 doi: 10.1002/ajmg.a.62528. PMID: 34611970
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M, Al Qahtani XS, Almakdob S, Altwaijri W, Ba-Armah DM, Hundallah K, Al Hashem A, Al Tala S, Maddirevula S, Alkuraya FS, Tabarki B, Alfadhel M
Seizure 2019 Jul;69:154-172. Epub 2019 Apr 27 doi: 10.1016/j.seizure.2019.04.018. PMID: 31054490
Novel West syndrome candidate genes in a Chinese cohort.
Peng J, Wang Y, He F, Chen C, Wu LW, Yang LF, Ma YP, Zhang W, Shi ZQ, Chen C, Xia K, Guo H, Yin F, Pang N
CNS Neurosci Ther 2018 Dec;24(12):1196-1206. Epub 2018 Apr 17 doi: 10.1111/cns.12860. PMID: 29667327Free PMC Article
Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A
J Neurol Sci 2015 May 15;352(1-2):99-104. Epub 2015 Apr 7 doi: 10.1016/j.jns.2015.03.042. PMID: 25873210

Clinical prediction guides

A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy.
Blakes AJM, English J, Banka S, Basu H
Am J Med Genet A 2022 Feb;188(2):595-599. Epub 2021 Oct 6 doi: 10.1002/ajmg.a.62528. PMID: 34611970
Novel West syndrome candidate genes in a Chinese cohort.
Peng J, Wang Y, He F, Chen C, Wu LW, Yang LF, Ma YP, Zhang W, Shi ZQ, Chen C, Xia K, Guo H, Yin F, Pang N
CNS Neurosci Ther 2018 Dec;24(12):1196-1206. Epub 2018 Apr 17 doi: 10.1111/cns.12860. PMID: 29667327Free PMC Article
Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A
J Neurol Sci 2015 May 15;352(1-2):99-104. Epub 2015 Apr 7 doi: 10.1016/j.jns.2015.03.042. PMID: 25873210

Recent systematic reviews

The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M, Al Qahtani XS, Almakdob S, Altwaijri W, Ba-Armah DM, Hundallah K, Al Hashem A, Al Tala S, Maddirevula S, Alkuraya FS, Tabarki B, Alfadhel M
Seizure 2019 Jul;69:154-172. Epub 2019 Apr 27 doi: 10.1016/j.seizure.2019.04.018. PMID: 31054490

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