U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Early Infantile Epileptic Encephalopathy, Autosomal Dominant

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

Recent clinical studies

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

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...