Table 3.

Developmental and Epileptic Encephalopathies in the Differential Diagnosis of CDKL5 Deficiency Disorder

Gene(s)DisorderMOI
ARX ARX-related DEE (OMIM 308350)XL
FOXG1 FOXG1 syndrome AD
GABRA1 GABRA1-related DEE (OMIM 615744)AD
GABRB3 GABRB3-related DEE (OMIM 617113)AD
GABRG2 GABRG2-related DEE (OMIM 618396)AD
GRIN2A GRIN2A-related speech disorders & epilepsy AD
KCNQ2 KCNQ2-related developmental & epileptic encephalopathy (OMIM 613720)AD
KCNT1 KCNT1-related epilepsy AD
MECP2 MECP2 classic Rett syndrome (See MECP2 Disorders.)XL
MECP2 duplication syndrome XL
PCDH19 PCDH19-related DEE (OMIM 300088)XL
SCN1A SCN1A seizure disorders AD
SCN2A SCN2A-related DEE (OMIM 613721)AD
SCN8A SCN8A-related epilepsy w/encephalopathy AD
SLC2A1 Classic glucose transporter type 1 deficiency syndrome (See Glucose Transporter Type 1 Deficiency Syndrome.)AD
(AR) 1
STXBP1 STXBP1 encephalopathy w/epilepsy AD
UBE3A Angelman syndrome See footnote 2.

Adapted from Leonard et al [2022], Supplementary Figure 2

AD = autosomal dominant; AR = autosomal recessive; DEE = developmental and epileptic encephalopathy; MOI = mode of inheritance; XL = X-linked

1.

Glucose transporter type 1 deficiency syndrome (Glut1 DS) is most commonly inherited in an autosomal dominant manner. Rarely, Glut1 DS is inherited in an autosomal recessive manner.

2.

Individuals with Angelman syndrome (AS) typically have the disorder as the result of a de novo genetic alteration associated with a very low recurrence risk. Less commonly, an individual with AS has the disorder as the result of a genetic alteration associated with an imprinting pattern of autosomal dominant inheritance or variable recurrence risk.

From: CDKL5 Deficiency Disorder

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