Disease The intractable diseases designated by MHLW, Japan

Diseases : 338 - Clinical trials : 34,520 / Drugs : 19,957 - ( DrugBank : 2,195 ) / Drug target genes : 613 - Drug target pathways : 297

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients (FY2022)
1	Spinal and bulbar muscular atrophy [Neu] 💬 "Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy-Alter-Sung syndrome"	18 trials    | 1 / 10 / 2 / 1 💬	15 drugs   [ 8 drugs ]	10 genes   17 pathways	1,697 patients Age distribution💬
2	Amyotrophic lateral sclerosis [Neu] 💬 "ALS"	645 trials    | 227 / 290 / 231 / 26 💬	589 drugs   [ 163 drugs ]	150 genes   225 pathways	9,765 patients Age distribution💬
3	Spinal muscular atrophy [Neu] 💬 "Myelopathic muscular atrophy", "Spinal muscular atrophy type I", "SMA I", "Werdnig-Hoffman disease", "Spinal muscular atrophy type II", "SMA II", "Dubowitz disease", "Spinal muscular atrophy type III", "SMA III", "Kugelberg-Welander disease", "Spinal muscular atrophy type IV", "SMA IV"	237 trials    | 106 / 117 / 116 / 28 💬	123 drugs   [ 29 drugs ]	51 genes   75 pathways	955 patients Age distribution💬
4	Primary lateral sclerosis [Neu] 💬 "PLS"	5 trials    | 2 / 2 / 0 / 1 💬	13 drugs   [ 6 drugs ]	13 genes   25 pathways	146 patients Age distribution💬
5	Progressive supranuclear palsy [Neu] 💬 "PSP"	89 trials    | 45 / 42 / 9 / 6 💬	107 drugs   [ 40 drugs ]	65 genes   108 pathways	12,830 patients Age distribution💬
6	Parkinson disease [Neu] 💬 "Disease Parkinson's"	2,307 trials    | 810 / 703 / 607 / 290 💬	2,007 drugs   [ 349 drugs ]	188 genes   199 pathways	143,267 patients Age distribution💬
7	Corticobasal degeneration [Neu] 💬 "Corticobasal syndrome", "CBD"	16 trials    | 5 / 3 / 1 / 0 💬	28 drugs   [ 13 drugs ]	9 genes   38 pathways	4,428 patients Age distribution💬
8	Huntington disease [Neu] 💬 "Huntington chorea"	242 trials    | 111 / 134 / 50 / 13 💬	205 drugs   [ 62 drugs ]	85 genes   159 pathways	892 patients Age distribution💬
9	Neuroacanthocytosis [Neu] 💬 "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome", "Huntington disease-like 2", "HDL2", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Hallervorden-Spatz syndrome"	-	-	-	36 patients Age distribution💬
10	Charcot-Marie-Tooth disease [Neu] 💬 "CMT", "Charcot-Marie-Tooth disease type 1", "CMT1", "Demyelinating CMT", "Charcot-Marie-Tooth disease type 2", "CMT2", "Axonal CMT", "Intermediate Charcot-Marie-Tooth disease", "CMT-I", "Intermediate CMT"	41 trials    | 25 / 17 / 24 / 4 💬	46 drugs   [ 9 drugs ]	11 genes   15 pathways	845 patients Age distribution💬
11	Myasthenia gravis [Neu] 💬 "MG", "Generalized myasthenia gravis", "Generalized MG", "GMG", "Systemic myasthenia gravis", "Systemic MG", "Ocular myasthenia gravis", "Ocular MG", "OMG"	332 trials    | 110 / 106 / 204 / 29 💬	234 drugs   [ 81 drugs ]	45 genes   127 pathways	26,387 patients Age distribution💬
12	Congenital myasthenic syndrome [Neu] 💬 "End-plate acetylcholine receptor deficiency", "Slow-channel congenital myasthenic syndrome", "Fast-channel congenital myasthenic syndrome", "Sodium channel myasthenia", "End-plate acetylcholine esterase deficiency", "Congenital myasthenic syndrome with episodic apnoea", "Dok-7 myasthenia", "DOK7 congenital myasthenic syndrome"	5 trials    | 1 / 0 / 0 / 0 💬	7 drugs   [ 3 drugs ]	5 genes   13 pathways	12 patients Age distribution💬
13	Multiple sclerosis/Neuromyelitis optica [Neu] 💬 "Multiple sclerosis", "MS", "Neuromyelitis optica", "Neuromyelitis optica spectrum disorder", "NMOSD", "Balo concentric sclerosis", "Baló concentric sclerosis"	3,340 trials    | 996 / 796 / 1256 / 514 💬	2,163 drugs   [ 383 drugs ]	241 genes   238 pathways	23,105 patients Age distribution💬
14	Chronic inflammatory demyelinating polyneuropathy [Neu] 💬 "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "CIDP", "Multifocal motor neuropathy"	175 trials    | 46 / 94 / 76 / 14 💬	161 drugs   [ 41 drugs ]	13 genes   24 pathways	5,291 patients Age distribution💬
15	Inclusion body myositis [Neu] 💬	42 trials    | 31 / 19 / 25 / 5 💬	33 drugs   [ 11 drugs ]	12 genes   123 pathways	847 patients Age distribution💬
16	Crow-Fukase syndrome [Neu] 💬 "POEMS syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "Takatsuki disease", "PEP syndrome", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome"	13 trials    | 2 / 7 / 2 / 1 💬	14 drugs   [ 7 drugs ]	4 genes   75 pathways	252 patients Age distribution💬
17	Multiple system atrophy [Neu] 💬 "MSA-C", "MSA-P", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome"	119 trials    | 43 / 40 / 40 / 7 💬	138 drugs   [ 44 drugs ]	59 genes   111 pathways	10,808 patients Age distribution💬
18	Spinocerebellar degeneration [Neu] 💬 "SCD", "Spinocerebellar ataxia type I", "SCA1", "Spinocerebellar ataxia type II", "SCA2", "Spinocerebellar ataxia type III", "SCA3", "Machado-Joseph disease", "Spinocerebellar ataxia type VI", "SCA6", "Spinocerebellar ataxia type VII", "SCA7", "Spinocerebellar ataxia type X", "SCA10", "Spinocerebellar ataxia type XII", "SCA12", "Dentatorubural pallidoluysian atrophy", "Dentatorubropallidoluysial atrophy", "DRPLA", "Naito-Koyanagi disease", "Friedreich ataxia", "FRDA", "Ataxia with vitamin E deficiency", "AVED", "Early-onset ataxia with ocular motor ataxia and hypoalbuminemia", "EOAH"	76 trials    | 20 / 46 / 19 / 5 💬	98 drugs   [ 31 drugs ]	44 genes   65 pathways	26,476 patients Age distribution💬
22	Moyamoya disease [Neu] 💬 "Occlusive disease in circle of Willis"	17 trials    | 3 / 2 / 1 / 3 💬	22 drugs   [ 17 drugs ]	33 genes   45 pathways	13,544 patients Age distribution💬
23	Prion disease [Neu] 💬 "Creutzfeldt-Jakob disease", "CJD", "Sporadic Creutzfeldt-Jakob disease", "Sporadic CJD", "sCJD", "Gerstmann-Straussler-Scheinker syndrome", "GSS", "Fatal familial insomnia", "FFI", "Environmentally acquired CJD", "Kuru disease", "Iatrogenic CJD", "iCJD", "Variant CCJD", "vCJD"	4 trials    | 0 / 1 / 0 / 0 💬	5 drugs   [ 2 drugs ]	-	464 patients Age distribution💬
24	Subacute sclerosing panencephalitis [Neu] 💬 "SSPE"	-	-	-	58 patients Age distribution💬
25	Progressive multifocal leukoencephalopathy [Neu] 💬 "PML", "Leukoencephalopathy, progressive multifocal"	26 trials    | 3 / 8 / 0 / 2 💬	35 drugs   [ 22 drugs ]	8 genes   37 pathways	77 patients Age distribution💬
26	HTLV-1-associated myelopathy [Neu] 💬 "Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy", "HAM"	29 trials    | 10 / 15 / 10 / 0 💬	47 drugs   [ 29 drugs ]	34 genes   119 pathways	1,016 patients Age distribution💬
27	Idiopathic basal ganglia calcification [Neu] 💬 "IBGC", "Fahr disease", "Familial idiopathic basal ganglia calcification", "FIBGC", "Primary familial brain calcification", "PFBC"	1 trial    | 0 / 1 / 0 / 0 💬	1 drug   [ 1 drug ]	-	123 patients Age distribution💬
29	Ullrich disease [Neu] 💬 "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy"	-	-	-	19 patients Age distribution💬
30	Distal myopathy [Neu] 💬 "Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "Distal myopathy with rimmed vacuoles", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy"	15 trials    | 1 / 5 / 12 / 0 💬	17 drugs   [ 3 drugs ]	1 gene   1 pathway	315 patients Age distribution💬
31	Bethlem myopathy [Neu] 💬 "Beth Rem myopathy"	-	-	-	21 patients Age distribution💬
32	Autophagic vacuolar myopathy [Neu] 💬 "Danon disease", "X-linked myopathy with excessive autophagy", "XMEA"	1 trial    | 1 / 0 / 0 / 0 💬	1 drug   [ - ]	-	9 patients Age distribution💬
33	Schwartz-Jampel syndrome [Neu] 💬 "Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Schwartz-Jampel syndrome type 1", "SJS type 1", "Schwartz-Jampel syndrome type 2", "SJS type 2", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome"	-	-	-	1 patient Age distribution💬
111	Congenital myopathy [Neu] 💬 "Nemaline myopathy", "Central core disease", "Minicore myopathy", "Multi-minicore myopathy", "Myotubular myopathy", "X-linked myotubular myopathy", "XLMTM", "Centronuclear myopathy", "CNM", "Congenital fiber-type disproportion myopathy"	10 trials    | 11 / 8 / 1 / 2 💬	17 drugs   [ 5 drugs ]	1 gene   9 pathways	377 patients Age distribution💬
112	Marinesco-Sjogren syndrome [Neu] 💬 "Hereditary cerebellar ataxia-childhood cataracts"	-	-	-	4 patients Age distribution💬
113	Muscular dystrophy [Neu] 💬 "Dystrophinopathies", "Duchenne muscular dystrophy", "DMD", "Becker muscular dystrophy", "Limb-girdle muscular dystrophy", "Myotilinopathy", "Laminopathy", "Caveolinopathy", "Limb gridle muscular dystrophy 1C", "LGMD1C", "Desminopathy", "Sarcoglycanopathy", "α-dystroglycanopathy", "Congenital muscular dystrophy", "Facioscapulohumeral muscular dystrophy", "Emery-Dreifuss muscular dystrophy", "Oculopharyngeal muscular dystrophy", "Fukuyama-type congenital muscular dystrophy", "FCMD", "Walker-Warburg syndrome", "Muscle-eye-brain disease", "Myotonic dystrophy", "Integrin α7 deficient CMD", "CIntegrin α7 deficient ongenital muscular dystrophy", "Merosin-deficient congenital muscular dystrophy", "Ullrich congenital muscular dystrophy", "Rigid spine syndrome", "Dynamin 2 deficient congenital muscular dystrophy", "Telesonin-deficient congenital muscular dystrophy", "Congenital muscular dystrophy with mitochondrial structural abnormalities"	646 trials    | 401 / 281 / 275 / 65 💬	471 drugs   [ 105 drugs ]	59 genes   170 pathways	5,444 patients Age distribution💬
114	Non-dystrophic myotonia syndrome [Neu] 💬 "Non-dystrophic Myotonia", "Myotonia congenita", "Thomsen disease", "Autosomal-dominant myotonia congenita", "Becker disease", "Autosomal-recessive myotonia congenita", "Paramyotonia congenita", "Sodium channel myotonia"	13 trials    | 1 / 3 / 5 / 0 💬	19 drugs   [ 5 drugs ]	18 genes   10 pathways	29 patients Age distribution💬
115	Hereditary periodic paralysis [Neu] 💬 "Hereditary Hypokalemic Periodic Paralysis", "Andersen-Tawil syndrome", "Hereditary Hyperkalemic Periodic Paralysis"	1 trial    | 1 / 0 / 0 / 0 💬	2 drugs   [ 2 drugs ]	13 genes   7 pathways	66 patients Age distribution💬
116	Atopic myelitis [Neu] 💬 "Idiopathic eosinophilic myelitis"	-	-	-	54 patients Age distribution💬
117	Syringomyelia [Neu] 💬 "Symptomatic syringomyelia", "Asymptomatic syringomyelia", "Syringomyelia with Chiari I malformation", "Syringomyelia with Chiari II malformation", "Syringomyelia without Chiari malformation", "Secondary syringomyelia", "Idiopathic syringomyelia"	3 trials    | 0 / 2 / 0 / 0 💬	5 drugs   [ 1 drug ]	-	623 patients Age distribution💬
118	Myelomeningocele [Neu] 💬 "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele"	5 trials    | 1 / 1 / 0 / 1 💬	7 drugs   [ 4 drugs ]	2 genes   10 pathways	137 patients Age distribution💬
119	Isaacs syndrome [Neu] 💬 "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis"	-	-	-	117 patients Age distribution💬
120	Hereditary dystonia [Neu] 💬 "DYT1 dystonia", "DYT2 dystonia", "DYT3 dystonia", "X-linked dystonia-parkinsonism", "Lubag", "DYT4 dystonia", "DYT5 dystonia", "DYT5a dystonia", "DYT5b dystonia", "DYT14 dystonia", "Segawa syndrome", "SS", "Dopa-responsive dystonia", "DRD", "DYT6 dystonia", "DYT7 dystonia", "DYT8 dystonia", "Paroxysmal nonkinesigenic dyskinesia 1", "PNKD1", "DYT9 dystonia", "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity", "Paroxysmal choreoathetosis and episodic ataxia and spasticity", "CSE", "DYT10 dystonia", "Episodic kinesigenic dyskinesia 1", "EKD1", "DYT11 dystonia", "Myoclonus-dystonia syndrome", "MDS", "DYT12 dystonia", "Rapid-onset dystonia-parkinsonism", "RDP", "Alternating hemiplegia of childhood", "AHC", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "DYT13 dystonia", "DYT15 dystonia", "DYT16 dystonia", "DYT17 dystonia", "DYT18 dystonia", "Paroxysmal execise-induced dyskinesia", "PED", "DYT19 dystonia", "Episodic kinesigenic dyskinesia 2", "EKD2", "DYT20 dystonia", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "Neurodegeneration with Brain Iron Accumulation 1", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Classical PKAN", "Atypical PKAN", "NBIA1", "Hallervorden-Spatz syndrome", "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration", "Neurodegeneration with Brain Iron Accumulation 2", "Infantile neuroaxonal dystrophy", "INAD", "Classical INAD", "Atypical INAD", "NBIA2", "Karak syndrome", "Neurodegeneration with Brain Iron Accumulation 3", "Neuroferritinopathy", "NBIA3", "Neurodegeneration with Brain Iron Accumulation 4", "Aceruloplasminemia", "Hereditary ceruloplasmin deficiency", "NBIA4", "Neurodegeneration with Brain Iron Accumulation 5", "NBIA5", "Beta-propeller protein-associated neurodegeneration", "BPAN", "Fatty Acid Hydroxylase-associated neurodegeneration", "FAHN", "Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35"	26 trials    | 11 / 3 / 18 / 3 💬	19 drugs   [ 3 drugs ]	2 genes   2 pathways	129 patients Age distribution💬
121	Neuroferritinopathy [Neu] 💬	-	-	-	2 patients Age distribution💬
122	Superficial siderosis [Neu] 💬 "SS", "Classical superficial siderosis", "Classical SS", "Brain table hemosiderosis"	3 trials    | 0 / 0 / 0 / 0 💬	3 drugs   [ 2 drugs ]	-	227 patients Age distribution💬
123	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [Neu] 💬 "CARASIL", "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis", "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis", "Cerebral autosomal recessive arteriopathy", "Autosomal recessive leukoencephalopathy"	-	-	-	6 patients Age distribution💬
124	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [Neu] 💬 "CADASIL", "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease"	12 trials    | 10 / 7 / 2 / 2 💬	14 drugs   [ 5 drugs ]	3 genes   11 pathways	223 patients Age distribution💬
125	Hereditary diffuse leukoencephalopathy with spheroid [Neu] 💬 "HDLS", "Hereditary diffuse leukoencephalopathy"	1 trial    | 0 / 1 / 0 / 0 💬	9 drugs   [ 1 drug ]	-	68 patients Age distribution💬
126	Perry syndrome [Neu] 💬	-	-	-	3 patients Age distribution💬
127	Frontotemporal lobar degeneration [Neu] 💬 "Frontotemporal dementia", "Semantic dementia"	90 trials    | 32 / 36 / 31 / 8 💬	87 drugs   [ 30 drugs ]	39 genes   88 pathways	1,352 patients Age distribution💬
128	Bickerstaff brainstem encephalitis [Neu] 💬	-	-	-	78 patients Age distribution💬
129	Acute encephalopathy with biphasic seizures and late reduced diffusion [Neu] 💬 "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy"	1 trial    | 0 / 1 / 0 / 0 💬	1 drug   [ 1 drug ]	-	47 patients Age distribution💬
130	Congenital insensitivity to pain with anhydrosis [Neu] 💬 "CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5"	-	-	-	45 patients Age distribution💬
131	Alexander disease [Neu] 💬 "ALXDRD", "AxD", "Alexander Disease type 1", "ALXDRD1", "AxD1", "Alexander Disease type 2", "ALXDRD2", "AxD2", "Alexander disease type 3", "ALXDRD3", "AxD3"	4 trials    | 3 / 3 / 4 / 0 💬	4 drugs   [ 1 drug ]	-	50 patients Age distribution💬
132	Congenital supranuclear bulbar palsy [Neu] 💬 "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome"	-	-	-	7 patients Age distribution💬
133	Moebius syndrome [Neu] 💬 "Mobius syndrome", "Möbius syndrome"	-	-	-	14 patients Age distribution💬
135	Aicardi syndrome [Neu] 💬	1 trial    | 0 / 1 / 0 / 0 💬	9 drugs   [ 3 drugs ]	-	13 patients Age distribution💬
136	Hemimegalencephaly [Neu] 💬 "Unilateral megalencephaly"	-	-	-	23 patients Age distribution💬
137	Focal cortical dysplasia [Neu] 💬 "FCD", "FCD type 1a", "FCD type 1b", "FCD type 1c", "FCD type 2a", "FCD type 2b", "FCD type 3a", "FCD type 3b", "FCD type 3c", "FCD type 3d"	9 trials    | 0 / 6 / 0 / 0 💬	5 drugs   [ 3 drugs ]	1 gene   51 pathways	77 patients Age distribution💬
138	Nerve cell migration disorder [Neu] 💬 "Lissencephaly", "Neuronal migration defect", "Classical lissencephaly", "Ectopic gray matter", "Subcortical ectopic gray matter", "Periventricular nodular ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "Porencephaly", "Miller-Dieker syndrome", "Perisylvian polymicrogyria", "X-linked Lissencephaly"	1 trial    | 0 / 1 / 0 / 0 💬	2 drugs   [ 1 drug ]	1 gene   106 pathways	76 patients Age distribution💬
139	Congenital cerebral hypomyelination [Neu] 💬 "Congenital cerebral white matter aplasia", "Pelizaeus-Merzbacher disease", "Pelizaeus-Merzbacher-like disease 1", "Pelizaeus-Merzbacher-like disease type 1", "Hypomyelination with atrophy of the basal ganglia and cerebellum", "18q-syndrome", "Chromosome 18q deletion syndrome", "Allan-Herndon-Dudley syndrome", "Mitochondrial Hsp60 chaperonopathy", "Salla disease", "Free sialic acid storage disease", "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "Hypomyelination and congenital cataract", "Ataxia, delayed dentition, and hypomyelination", "Peripheral demyelinating neuropathy", "Central dysmyelinating leukodystrophy", "Waardenburg syndrome", "Hirschsprung disease"	10 trials    | 1 / 7 / 0 / 0 💬	7 drugs   [ 2 drugs ]	2 genes   2 pathways	44 patients Age distribution💬
140	Dorabe syndrome [Neu] 💬 "Dravet syndrome"	116 trials    | 46 / 25 / 80 / 11 💬	65 drugs   [ 17 drugs ]	50 genes   64 pathways	84 patients Age distribution💬
141	Mesial temporal lobe epilepsy with hippocampal sclerosis [Neu] 💬 "Medial temporal lobe epilepsy with hippocampal sclerosis", "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis", "Medial temporal lobe epilepsy"	1 trial    | 1 / 1 / 0 / 0 💬	1 drug   [ - ]	-	72 patients Age distribution💬
142	Myoclonic absence epilepsy [Neu] 💬	-	-	-	4 patients Age distribution💬
143	Epilepsy with myoclonic-atonic seizure [Neu] 💬 "Epilepsy with myoclonic cataplexy"	-	-	-	19 patients Age distribution💬
144	Lennox-Gastaut syndrome [Neu] 💬	111 trials    | 35 / 17 / 79 / 8 💬	72 drugs   [ 14 drugs ]	49 genes   61 pathways	348 patients Age distribution💬
145	West syndrome [Neu] 💬 "Infantile spasm"	43 trials    | 16 / 15 / 18 / 9 💬	52 drugs   [ 15 drugs ]	28 genes   26 pathways	290 patients Age distribution💬
146	Ohtahara syndrome [Neu] 💬 "Early infantile epileptic encephalopathy with suppression burst"	-	-	-	21 patients Age distribution💬
147	Early myoclonic encephalopathy [Neu] 💬	-	-	-	9 patients Age distribution💬
148	Epilepsy of infancy with migrating focal seizure [Neu] 💬 "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy"	-	-	-	18 patients Age distribution💬
149	Hemiconvulsion hemiplegia epilepsy syndrome [Neu] 💬 "One side convulsions", "Hemiplegia", "Epilepsy syndrome"	25 trials    | 3 / 4 / 8 / 3 💬	35 drugs   [ 13 drugs ]	16 genes   22 pathways	33 patients Age distribution💬
150	Ring chromosome 20 epilepsy syndrome [Neu] 💬 "Ring chromosome 20 syndrome"	-	-	-	12 patients Age distribution💬
151	Rasmussen encephalitis [Neu] 💬	1 trial    | 0 / 1 / 1 / 0 💬	2 drugs   [ 1 drug ]	5 genes   33 pathways	48 patients Age distribution💬
152	PCDH19 related syndrome [Neu] 💬 "PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19-related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy"	10 trials    | 5 / 5 / 5 / 1 💬	7 drugs   [ 1 drug ]	16 genes   7 pathways	12 patients Age distribution💬
153	Acute encephalitis with refractory, repetitive partial seizure [Neu] 💬 repetitive partial seizure", "AERRPS", "Refractory frequent partial seizures intussusception acute encephalitis", "Febrile infection related epilepsy syndrome", "FIRES", "New onset refractory status epilepsy syndrome", "NORSE syndrome"	-	-	-	65 patients Age distribution💬
154	Epilepsy with continuous spikes and waves during slow sleep [Neu] 💬 "Epileptic encephalopathy with continuous spike-and-wave during sleep"	7 trials    | 0 / 7 / 0 / 0 💬	4 drugs   [ 3 drugs ]	13 genes   7 pathways	21 patients Age distribution💬
155	Acquired aphasia with convulsive disorder [Neu] 💬 "Landau-Kleffner syndrome"	1 trial    | 0 / 1 / 1 / 0 💬	2 drugs   [ 2 drugs ]	29 genes   14 pathways	4 patients Age distribution💬
156	Rett syndrome [Neu] 💬 "Typical Rett syndrome", "Atypical Rett syndrome"	44 trials    | 4 / 24 / 16 / 0 💬	61 drugs   [ 23 drugs ]	57 genes   83 pathways	109 patients Age distribution💬
157	Sturge-Weber syndrome [Neu] 💬 "Síndrome de Sturge-Weber"	10 trials    | 3 / 6 / 1 / 1 💬	13 drugs   [ 4 drugs ]	5 genes   63 pathways	75 patients Age distribution💬
158	Tuberous sclerosis [Neu] 💬 "Tuberous sclerosis complex"	112 trials    | 49 / 40 / 55 / 17 💬	71 drugs   [ 19 drugs ]	35 genes   118 pathways	1,017 patients Age distribution💬
177	Joubert syndrome related disorder [Neu] 💬 "Joubert syndrome and related disorder", "Joubert syndrome", "JSRD", "Arima syndrome", "Senior-Loken syndrome", "Senior-Løken syndrome", "COACH syndrome", "Orofaciodigital syndrome"	1 trial    | 0 / 0 / 0 / 0 💬	1 drug   [ - ]	-	16 patients Age distribution💬
201	Angelman syndrome [Neu] 💬	25 trials    | 9 / 8 / 5 / 0 💬	40 drugs   [ 11 drugs ]	22 genes   20 pathways	29 patients Age distribution💬
263	Cerebrotendinous xanthomatosis [Neu] 💬 "27-hydroxylase deficiency", "CYP27 deficiency"	6 trials    | 0 / 1 / 2 / 0 💬	11 drugs   [ 2 drugs ]	2 genes   4 pathways	48 patients Age distribution💬
307	Canavan disease [Neu] 💬	6 trials    | 3 / 3 / 0 / 0 💬	11 drugs   [ 5 drugs ]	2 genes   2 pathways	-
308	Progressive leukoencephalopathy [Neu] 💬 "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure"	-	-	-	20 patients Age distribution💬
309	Progressive myoclonus epilepsy [Neu] 💬 "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME"	11 trials    | 0 / 0 / 6 / 0 💬	15 drugs   [ 2 drugs ]	4 genes   9 pathways	43 patients Age distribution💬
320	Inherited glycosylphosphatidylinositol deficiency [Neu] 💬 "Inherited GPI deficiency", "IGD", "Congenital glycosylphosphatidylinositol deficiency", "Congenital GPI deficiency"	3 trials    | 0 / 0 / 0 / 0 💬	2 drugs   [ 2 drugs ]	-	1 patient Age distribution💬
334	Cerebral creatine deficiency syndrome [Neu] 💬 "CCDS"	-	-	-	-