Epileptic Encephalopathy, Infantile Or Early Childhood; Iecee

Description

IECEE is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017).

Genes related to Epileptic Encephalopathy, Infantile Or Early Childhood; Iecee

PPP3CA

Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Infantile Or Early Childhood; Iecee

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hypertelorism
Abnormal facial shape
Spasticity
Visual impairment
Arrhythmia
Cerebral atrophy

And another 10 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

Accelerate your rare disease diagnosis with us

Learn more

Epileptic Encephalopathy, Infantile Or Early Childhood; Iecee Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...) View the complete list with 202 more genes Panel GTR000561534 complete gene list UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1, TPP1, CLN3, WWOX, PNKD, FARS2, SLC6A8, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, CBL, SYNGAP1, SMC1A, TSC1, CLN6, CLN8, PPT1, SLC35A3, CLN5, CSTB, SCN1A, CACNA1A, NF1, SGCE, CASR, KCNA1, CACNB4, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, LMNB2, MBD5, KCNMA1, SCARB2, SCN5A, ALG13, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, QARS, RELN, FLNA, SRPX2, DNAJC5, MFSD8, RBFOX1, CACNA2D2, HNRNPU, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, ANKRD11, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, SERPINI1, ATRX, IQSEC2, ARHGEF9, SYN1, ATP6AP2, CASK, ZEB2, DIAPH1, EHMT1, ARID1B, ZDHHC9, CLCN4, NECAP1, NEDD4L, MTOR, NAGA, DNMT3A, SATB2, IER3IP1, TPK1, RANBP2, PACS1, NTRK2, C12orf57, KCNH5, MDH2, UBA5, HIVEP2, ARV1, FGF12, COQ4, PRDM8, PIGG, CERS1, DDX3X, GLRA1, SLC12A5, GPHN, NGLY1, NPRL3, NPRL2, CAD, FRRS1L, GRIN2D, HCN2, RORB, PLPBP, KCNH1, CARS2, CLTC, GAL, GABBR2, GABRB1, PIGQ, PPP2R1A, PIGP, RYR3, KCND2, YWHAG, FASN, AP3B2, JMJD1C, PIK3AP1, PPP3CA, ARHGEF15, SNX27, CNTN2, ITPA, NUS1, RAB11A, STRADA, KPNA7, GUF1, HECW2, RBFOX3, DENND5A Specificity 1 % Genes 100 %

Panel Name, Specifity and genes Tested/covered

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes

Specificity
1 %

Genes
100 %

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTHEMIA 1; THCYT1 PRECOCIOUS PUBERTY, MALE-LIMITED MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2; FASPS2 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP