Page last updated: 2024-09-27

Agyria-Pachygyria-Band Spectrum

Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)

Synonyms(25)

Synonym
Miller-Dieker Lissencephaly Syndrome
Lissencephaly 1
Heterotopia, Subcortical Band
Lissencephalies, Classical
Classic Lissencephaly
Double Cortex Syndrome
Lissencephaly, X-Linked, 1
Classical Lissencephalies and Subcortical Band Heterotopias
Classical Lissencephaly Syndrome
Subcortical Laminar Heterotopia
Lissencephaly, X-Linked
Lissencephaly, Type 1
Lissencephaly, Miller-Dieker
Isolated Lissencephaly Sequence
Subcortical Band Heterotopia
Lissencephaly-Subcortical Band Heterotopia
X-Linked Lissencephaly
Type 1 Lissencephaly
Lissencephaly Type 1
Lissencephaly, Classic
Lissencephaly Syndrome, Miller-Dieker
Miller-Dieker Syndrome
Chromosome 17p13.3 Deletion Syndrome
Agyria-Pachygyria-Band Spectrum
Lissencephaly Sequence, Isolated

Research Excerpts

Research

Studies (22)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's5 (22.73)18.1394
2010's11 (50.00)28.8240
2020's6 (27.27)9.53
DrugIndicatedRelationship StrengthStudiesTrials
gamma-aminobutyric acid0low30
carmustine0low10
valproic acid0low20
lamotrigine0low20
phenobarbital0low10
vigabatrin0low10
thyroxine0low10
pentylenetetrazole0low20
triiodothyronine0low10
bromodeoxyuridine0low20
bicuculline0low10
fluorodeoxyglucose f180low30
trichostatin a0low10
cocaine0low10
propylthiouracil0low10
freedom0low10
levetiracetam0low10
cysteine0low10
cholecystokinin0low20
neuropeptide y0low10
oligonucleotides0low10
technetium tc 99m bicisate0low10
gq1b ganglioside0low10

Protein Targets (366)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
thioredoxin reductase6006
euchromatic histone-lysine N-methyltransferase 2110011
chromobox protein homolog 16006
importin subunit beta-1 isoform 11001
snurportin-11001
geminin7007
Gamma-aminobutyric acid receptor subunit pi0404
Gamma-aminobutyric acid receptor subunit delta0404
Gamma-aminobutyric acid receptor subunit alpha-10415
Gamma-aminobutyric acid receptor subunit beta-10415
Gamma-aminobutyric acid receptor subunit gamma-20415
Gamma-aminobutyric acid receptor subunit beta-30415
Gamma-aminobutyric acid receptor subunit alpha-50415
Gamma-aminobutyric acid receptor subunit alpha-30415
Gamma-aminobutyric acid receptor subunit alpha-20415
Gamma-aminobutyric acid receptor subunit beta-20415
Gamma-aminobutyric acid receptor subunit alpha-40415
Gamma-aminobutyric acid receptor subunit epsilon0404
Gamma-aminobutyric acid receptor subunit alpha-60415
Gamma-aminobutyric acid receptor subunit gamma-10404
Gamma-aminobutyric acid receptor subunit gamma-30404
Gamma-aminobutyric acid receptor subunit theta0404
interleukin 82002
pregnane X receptor2002
RAR-related orphan receptor gamma2002
ATAD5 protein, partial5005
TDP1 protein5005
Microtubule-associated protein tau3003
AR protein3003
aldehyde dehydrogenase 1 family, member A14004
nuclear receptor subfamily 1, group I, member 33003
progesterone receptor2002
glucocorticoid receptor [Homo sapiens]3003
retinoic acid nuclear receptor alpha variant 12002
retinoid X nuclear receptor alpha2002
estrogen-related nuclear receptor alpha5005
pregnane X nuclear receptor4004
estrogen nuclear receptor alpha5005
bromodomain adjacent to zinc finger domain 2B2002
arylsulfatase A4004
IDH11001
nuclear receptor subfamily 1, group I, member 21001
cellular tumor antigen p53 isoform a1001
Nuclear hormone receptor family member daf-120011
nuclear factor erythroid 2-related factor 2 isoform 22002
thyroid hormone receptor beta isoform 23003
serine/threonine-protein kinase mTOR isoform 11001
oxysterols receptor LXR-beta isoform 10011
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
peripheral myelin protein 223003
survival motor neuron protein isoform d2002
muscarinic acetylcholine receptor M13003
Voltage-dependent calcium channel gamma-2 subunit1001
Thymidine kinase, cytosolic0101
Glutamate receptor 21001
Thymidine phosphorylase0001
Thymidylate kinase0101
Nuclear receptor ROR-gamma2002
Spike glycoprotein1001
Thymidine kinase0001
Thymidylate kinase0101
ATPase family AAA domain-containing protein 52002
Ataxin-22002
endonuclease IV2002
GLI family zinc finger 31001
thyroid stimulating hormone receptor3003
cytochrome P450 family 3 subfamily A polypeptide 43003
EWS/FLI fusion protein5005
cytochrome P450 2D62002
peroxisome proliferator activated receptor gamma5005
Bloom syndrome protein isoform 15005
peripheral myelin protein 22 isoform 12002
thyroid hormone receptor beta isoform a5005
huntingtin isoform 21001
nuclear factor erythroid 2-related factor 2 isoform 15005
nuclear receptor ROR-gamma isoform 11001
ATP-binding cassette sub-family C member 30404
Multidrug resistance-associated protein 40404
Bile salt export pump0202
Bile salt export pump0909
Glutathione reductase, mitochondrial0101
Cellular tumor antigen p534004
Alpha-synuclein2002
Glutathione reductase0101
Canalicular multispecific organic anion transporter 10404
ATP-dependent phosphofructokinase3003
Chain A, CHIMERA OF IG KAPPA CHAIN: HUMAN CONSTANT REGION AND MOUSE VARIABLE REGION0011
Chain B, CHIMERA OF IG GAMMA-1 CHAIN: HUMAN CONSTANT REGION AND MOUSE VARIABLE REGION0011
Chain H, Fab M82G2, Heavy chain0011
Chain L, Fab M82G2, Light chain0011
Chain H, Fab M82g2, Heavy Chain0011
Chain L, Fab M82g2, Light Chain0011
Amyloid-beta precursor protein0101
Fatty acid-binding protein, heart0101
Muscarinic acetylcholine receptor M20101
Muscarinic acetylcholine receptor M10101
5-hydroxytryptamine receptor 2C0202
Tryptophan 5-hydroxylase 10101
5-hydroxytryptamine receptor 2A0202
D0101
5-hydroxytryptamine receptor 1A0101
Alpha-2B adrenergic receptor0101
Alpha-2C adrenergic receptor0101
Alpha-2A adrenergic receptor0101
Liver carboxylesterase 10102
Sodium-dependent noradrenaline transporter 0202
Sodium-dependent dopamine transporter0202
cAMP-specific 3',5'-cyclic phosphodiesterase 4A0101
5-hydroxytryptamine receptor 1B0101
5-hydroxytryptamine receptor 1D0101
5-hydroxytryptamine receptor 1F0101
5-hydroxytryptamine receptor 2B0202
5-hydroxytryptamine receptor 60101
Sodium-dependent serotonin transporter0202
Sodium-dependent serotonin transporter0203
5-hydroxytryptamine receptor 7 0101
5-hydroxytryptamine receptor 5A0101
5-hydroxytryptamine receptor 5B0101
Glutamate receptor ionotropic, NMDA 1 0101
5-hydroxytryptamine receptor 3A0101
Lysosomal Pro-X carboxypeptidase0101
D(2) dopamine receptor0101
Glutamate receptor ionotropic, NMDA 2A 0101
Glutamate receptor ionotropic, NMDA 2B0101
Glutamate receptor ionotropic, NMDA 2C0101
Sodium-dependent dopamine transporter 0202
cAMP-specific 3',5'-cyclic phosphodiesterase 4B0101
cAMP-specific 3',5'-cyclic phosphodiesterase 4D0101
Potassium voltage-gated channel subfamily H member 20303
Leukotriene B4 receptor 10101
Sodium-dependent dopamine transporter0202
Glutamate receptor ionotropic, NMDA 2D0101
5-hydroxytryptamine receptor 4 0101
Glutamate receptor ionotropic, NMDA 3B0101
Sigma non-opioid intracellular receptor 10202
5-hydroxytryptamine receptor 3B0101
Leukotriene B4 receptor 20101
Glutamate receptor ionotropic, NMDA 3A0101
Transporter0202
Chain A, Ferritin light chain2002
Gamma-aminobutyric acid 0011
Gamma-aminobutyric acid receptor subunit rho-30011
Hsf1 protein0011
regulator of G-protein signaling 43003
D(1A) dopamine receptor3003
transcriptional regulator ERG isoform 31001
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
histone acetyltransferase KAT2A isoform 12002
lamin isoform A-delta104004
neuropeptide S receptor isoform A2002
Gamma-aminobutyric acid receptor subunit pi0213
Histone deacetylase 30507
Gamma-aminobutyric acid type B receptor subunit 20112
Gamma-aminobutyric acid type B receptor subunit 20101
Gamma-aminobutyric acid receptor subunit beta-10213
Gamma-aminobutyric acid receptor subunit alpha-60011
Gamma-aminobutyric acid receptor subunit delta0213
Gamma-aminobutyric acid receptor subunit gamma-20224
Gamma-aminobutyric acid receptor subunit alpha-50213
Gamma-aminobutyric acid receptor subunit alpha-30213
Gamma-aminobutyric acid receptor subunit gamma-20011
Gamma-aminobutyric acid receptor subunit delta0011
Gamma-aminobutyric acid receptor subunit gamma-10213
Gamma-aminobutyric acid receptor subunit alpha-20213
Sodium- and chloride-dependent GABA transporter 10101
Gamma-aminobutyric acid receptor subunit rho-10022
Gamma-aminobutyric acid receptor subunit alpha-20011
Gamma-aminobutyric acid receptor subunit alpha-30011
Gamma-aminobutyric acid receptor subunit gamma-30011
Gamma-aminobutyric acid receptor subunit alpha-40213
Gamma-aminobutyric acid receptor subunit gamma-30213
Gamma-aminobutyric acid receptor subunit rho-20011
Gamma-aminobutyric acid receptor subunit alpha-60213
Sodium- and chloride-dependent GABA transporter 10101
Sodium- and chloride-dependent taurine transporter0101
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Sodium- and chloride-dependent GABA transporter 10101
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Sodium- and chloride-dependent betaine transporter0101
Sodium- and chloride-dependent betaine transporter0101
Sodium- and chloride-dependent GABA transporter 30101
Gamma-aminobutyric acid receptor subunit beta-10011
Histone deacetylase 40519
Gamma-aminobutyric acid receptor subunit alpha-10011
Gamma-aminobutyric acid receptor subunit alpha-10224
Gamma-aminobutyric acid receptor subunit beta-30213
Gamma-aminobutyric acid receptor subunit beta-30011
Gamma-aminobutyric acid receptor subunit beta-20224
4-aminobutyrate aminotransferase, mitochondrial0102
4-aminobutyrate aminotransferase, mitochondrial0102
TAR DNA-binding protein 431001
Histone deacetylase 10529
Sterol O-acyltransferase 10011
Proton-coupled amino acid transporter 10101
Gamma-aminobutyric acid receptor subunit alpha-50011
Gamma-aminobutyric acid receptor subunit pi0011
Histone deacetylase 70507
GABA theta subunit0213
Histone deacetylase 20518
Polyamine deacetylase HDAC100507
Histone deacetylase 11 0507
Histone deacetylase 80507
Gamma-aminobutyric acid receptor subunit alpha-40011
Gamma-aminobutyric acid receptor subunit epsilon0213
Platelet glycoprotein VI0011
Gamma-aminobutyric acid receptor subunit theta0011
Sodium- and chloride-dependent GABA transporter 20101
Gamma-aminobutyric acid receptor subunit gamma-10011
Histone deacetylase 60518
Gamma-aminobutyric acid type B receptor subunit 10112
Histone deacetylase 90507
Histone deacetylase 50507
Gamma-aminobutyric acid type B receptor subunit 10101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
GALC protein1001
cytochrome P450 2D6 isoform 11001
potassium voltage-gated channel subfamily H member 2 isoform d2002
mitogen-activated protein kinase 11001
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 2 subunit alpha0101
Sodium channel protein type 3 subunit alpha0101
Dihydrofolate reductase0202
Potassium voltage-gated channel subfamily E member 10101
Sodium channel protein type 4 subunit alpha0102
Potassium voltage-gated channel subfamily KQT member 10101
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Sodium channel protein type 5 subunit alpha0101
Sodium channel protein type 9 subunit alpha0101
Sodium channel protein type 2 subunit alpha0202
Sodium channel protein type 3 subunit alpha0202
Sigma non-opioid intracellular receptor 10101
Sodium channel protein type 10 subunit alpha0101
chaperonin-containing TCP-1 beta subunit homolog1001
flap endonuclease 11001
Synaptic vesicle glycoprotein 2A0101
Neuropeptide Y receptor type 10202
Neuropeptide Y receptor type 20202
GLS protein1001
DNA polymerase kappa isoform 12002
Sodium channel protein type 1 subunit alpha0101
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
phosphopantetheinyl transferase1001
peroxisome proliferator-activated receptor delta2002
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
cytochrome P450 2C19 precursor1001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 12002
NADH-cytochrome b5 reductase 3 0101
Myeloperoxidase0101
Thyroid peroxidase0101
Taste receptor type 2 member 380012
Chain X, Thyroid hormone receptor beta-10022
Chain X, Thyroid hormone receptor beta-10022
USP1 protein, partial3003
apical membrane antigen 1, AMA12002
G1001
aryl hydrocarbon receptor2002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a3003
v-jun sarcoma virus 17 oncogene homolog (avian)1001
serine/threonine-protein kinase PLK11001
DNA polymerase eta isoform 11001
Solute carrier organic anion transporter family member 1A40103
Nuclear receptor subfamily 1 group I member 20011
Solute carrier organic anion transporter family member 1A50002
Rap guanine nucleotide exchange factor 31001
Interferon beta2002
HLA class I histocompatibility antigen, B alpha chain 1001
Transthyretin0103
Thyroid hormone receptor alpha0235
Thyroid hormone receptor beta0235
Proliferating cell nuclear antigen0202
Retinoic acid receptor RXR-alpha0022
UDP-glucuronosyltransferase 1A1 0101
Peroxisome proliferator-activated receptor gamma0044
Malate dehydrogenase, mitochondrial0101
Solute carrier organic anion transporter family member 1A20002
Solute carrier organic anion transporter family member 1A30002
Solute carrier organic anion transporter family member 4C10102
Monocarboxylate transporter 80001
Inositol hexakisphosphate kinase 11001
Bile acid receptor0101
Solute carrier organic anion transporter family member 1C10001
Solute carrier organic anion transporter family member 1B10002
cytochrome P450 2C9, partial1001
Chain A, HDLP (HISTONE DEACETYLASE-LIKE PROTEIN)0101
Chain B, HDLP (HISTONE DEACETYLASE-LIKE PROTEIN)0101
Chain A, Histone deacetylase 7a0101
Chain A, Histone deacetylase 7a0101
Histone deacetylase 80101
PPM1D protein1001
Histone deacetylase 0101
Lysine-specific demethylase 4E0101
glucocerebrosidase2002
unnamed protein product0001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
vitamin D3 receptor isoform VDRA1001
Histone deacetylase 10202
5-hydroxytryptamine receptor 3A0101
Histone deacetylase 30101
Plasma kallikrein0101
Integrin beta-30101
Cytochrome P450 1A20101
Integrin alpha-IIb0101
Coagulation factor VII0101
Leukotriene A-4 hydrolase0101
Cytochrome P450 2D60101
Vitamin D3 receptor0101
Cytochrome P450 2C9 0101
Tissue factor0202
Adenosine receptor A10101
Cytochrome P450 2C190101
Delta-type opioid receptor0101
Histamine H2 receptor0101
Histone deacetylase 20101
Splicing factor 3B subunit 30101
Histone deacetylase 10101
Adenosine receptor A10101
Histone deacetylase 0101
Histone deacetylase 40101
Polyamine deacetylase HDAC100101
Histone deacetylase 30101
Histone deacetylase-like amidohydrolase0202
Histone deacetylase 70101
NAD-dependent protein deacetylase sirtuin-60112
Histone deacetylase 80101
Histone deacetylase 110101
HD2 type histone deacetylase HDA106 0202
Histone deacetylase 90101
Histone deacetylase 70101
Histone deacetylase 6 0101
Histone deacetylase 40101
Histone deacetylase 0101
Nuclear receptor corepressor 20202
Histone deacetylase 60101
Histone deacetylase 50101
Histone deacetylase 0101
glp-1 receptor, partial1001
farnesoid X nuclear receptor2002
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
muscleblind-like protein 1 isoform 11001
Prothrombin0011
Androgen receptor0101
Thyroid hormone receptor beta0101
Adenosine receptor A10202
Sigma non-opioid intracellular receptor 10112
Solute carrier organic anion transporter family member 4C10001
Solute carrier organic anion transporter family member 4A10001
Solute carrier organic anion transporter family member 1C10101
Solute carrier organic anion transporter family member 1B30001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
Luciferase1001
Cocaine esterase0101
UDP-glucuronosyltransferase 1A90001
Aldo-keto reductase family 1 member B10101
Cytochrome P450 2A60101
Aldo-keto reductase family 1 member A10101
UDP-glucuronosyltransferase 2B70102
UDP-glucuronosyltransferase 1-60001
Aldo-keto reductase family 1 member A10101
Aldo-keto reductase family 1 member A10101
Aldo-keto reductase family 1 member B70101
NAD-dependent protein deacylase sirtuin-5, mitochondrial0101
4-aminobutyrate aminotransferase, mitochondrial0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]