Epilepsy, Progressive Myoclonic, 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

EPM9 MCID: EPL154 MIFTS: 24	Epilepsy, Progressive Myoclonic, 9 (EPM9) Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Epilepsy, Progressive Myoclonic, 9

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 9:

Name: Epilepsy, Progressive Myoclonic, 9 ⁵⁸ ³⁰ ⁶

Epm9 ⁵⁸ ⁶⁰ ⁷⁶

Progressive Myoclonic Epilepsy Due to Lmnb2 Deficiency ⁶⁰

Progressive Myoclonic Epilepsy Type 9 ⁶⁰

Progressive Myoclonus Epilepsy Type 9 ⁶⁰

Epilepsy, Progressive Myoclonic 9 ⁷⁶

Pme Type 9 ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

progressive myoclonic epilepsy type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: young Adult;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in the first decade
two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)

HPO:

³³

epilepsy, progressive myoclonic, 9:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Episodic and paroxysmal disorders

Epilepsy

Generalized idiopathic epilepsy and epileptic syndromes

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

OMIM ⁵⁸ 616540

MeSH ⁴⁵ D020191

ICD10 via Orphanet ³⁵ G40.3

Orphanet ⁶⁰ ORPHA457265

MedGen ⁴³ C4225289 CN232697

SNOMED-CT via HPO ⁷⁰ 111266001 127324008 17450006 more

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Summaries for Epilepsy, Progressive Myoclonic, 9

UniProtKB/Swiss-Prot : ⁷⁶ Epilepsy, progressive myoclonic 9: An autosomal recessive form of progressive myoclonic epilepsy, a rare disease initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. EPM9 features include myoclonus, tonic-clonic seizures, ataxia, and psychomotor development.

MalaCards based summary : Epilepsy, Progressive Myoclonic, 9, also known as epm9, is related to lipodystrophy, partial, acquired. An important gene associated with Epilepsy, Progressive Myoclonic, 9 is LMNB2 (Lamin B2), and among its related pathways/superpathways are Apoptosis and survival Caspase cascade and Gastric Cancer Network 2. Affiliated tissues include tongue, and related phenotypes are scoliosis and global developmental delay

Description from OMIM: 616540

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Related Diseases for Epilepsy, Progressive Myoclonic, 9

Diseases in the Epilepsy, Myoclonic Juvenile family:

Epilepsy, Familial Adult Myoclonic, 1	Myoclonic Epilepsy, Familial Infantile
Epilepsy, Familial Adult Myoclonic, 2	Myoclonic Epilepsy, Juvenile 3
Myoclonic Epilepsy, Juvenile 4	Epilepsy, Progressive Myoclonic, 1b
Epilepsy, Familial Adult Myoclonic, 3	Epilepsy, Progressive Myoclonic, 6
Epilepsy, Juvenile Myoclonic 9	Epilepsy, Familial Adult Myoclonic, 4
Epilepsy, Familial Adult Myoclonic, 5	Epilepsy, Progressive Myoclonic 7
Epilepsy, Progressive Myoclonic, 8	Epilepsy, Progressive Myoclonic, 9
Epilepsy, Progressive Myoclonic, 10	Epilepsy, Juvenile Myoclonic 10
Epilepsy, Familial Adult Myoclonic, 6	Epilepsy, Familial Adult Myoclonic, 7
Epilepsy Progressive Myoclonic Type 3	Myoclonic Epilepsy of Infancy
Benign Adult Familial Myoclonic Epilepsy

Diseases related to Epilepsy, Progressive Myoclonic, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	lipodystrophy, partial, acquired	9.5	LMNB2 MIR7108

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Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 9

Human phenotypes related to Epilepsy, Progressive Myoclonic, 9:

³³ (show all 9)

#	Description	HPO Source Accession
1	scoliosis ³³	HP:0002650
2	global developmental delay ³³	HP:0001263
3	myoclonus ³³	HP:0001336
4	gait ataxia ³³	HP:0002066
5	ventriculomegaly ³³	HP:0002119
6	status epilepticus ³³	HP:0002133
7	generalized amyotrophy ³³	HP:0003700
8	short thumb ³³	HP:0009778
9	microglossia ³³	HP:0000171

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
seizures
myoclonus
gait ataxia
status epilepticus
enlarged ventricles (patient a)
more

Muscle Soft Tissue:
muscle atrophy, diffuse
loss of subcutaneous fat, diffuse

Skeletal Hands:
curved digits (patient a)
short thumbs (patient a)

Skeletal Spine:
scoliosis

Head And Neck Mouth:
small tongue (patient a)

Clinical features from OMIM:

616540

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Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 9

Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 9

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Genetic Tests for Epilepsy, Progressive Myoclonic, 9

Genetic tests related to Epilepsy, Progressive Myoclonic, 9:

#	Genetic test	Affiliating Genes
1	Epilepsy, Progressive Myoclonic, 9 ³⁰	LMNB2

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Anatomical Context for Epilepsy, Progressive Myoclonic, 9

MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic, 9:

⁴²

Tongue

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Publications for Epilepsy, Progressive Myoclonic, 9

Articles related to Epilepsy, Progressive Myoclonic, 9:

#	Title	Authors	Year
1	Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. ( 25954030 )	Damiano JA...Hildebrand MS	2015

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Genes for Epilepsy, Progressive Myoclonic, 9

Genes related to Epilepsy, Progressive Myoclonic, 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LMNB2	Lamin B2	Protein Coding	1729.63	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	25954030
2	MIR7108	MicroRNA 7108	RNA Gene	8.86	GeneCards inferred via : Variants (show sections)

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Variations for Epilepsy, Progressive Myoclonic, 9

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 9:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	LMNB2	p.His157Tyr	VAR_074170	rs797045143

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 9:

⁶ (show top 50) (show all 120)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LMNB2	NM_032737.3(LMNB2): c.704G> A (p.Arg235Gln)	single nucleotide variant	Benign	rs121912497	GRCh37	Chromosome 19, 2435150: 2435150
2	LMNB2	NM_032737.3(LMNB2): c.704G> A (p.Arg235Gln)	single nucleotide variant	Benign	rs121912497	GRCh38	Chromosome 19, 2435152: 2435152
3	LMNB2	NM_032737.4(LMNB2): c.469C> T (p.His157Tyr)	single nucleotide variant	Pathogenic	rs797045143	GRCh38	Chromosome 19, 2438464: 2438464
4	LMNB2	NM_032737.4(LMNB2): c.469C> T (p.His157Tyr)	single nucleotide variant	Pathogenic	rs797045143	GRCh37	Chromosome 19, 2438462: 2438462
5	LMNB2	NM_032737.3(LMNB2): c.1699G> A (p.Ala567Thr)	single nucleotide variant	Uncertain significance	rs760189690	GRCh37	Chromosome 19, 2431792: 2431792
6	LMNB2	NM_032737.3(LMNB2): c.1699G> A (p.Ala567Thr)	single nucleotide variant	Uncertain significance	rs760189690	GRCh38	Chromosome 19, 2431794: 2431794
7	LMNB2	NM_032737.3(LMNB2): c.804C> T (p.Asp268=)	single nucleotide variant	Benign/Likely benign	rs150969746	GRCh37	Chromosome 19, 2435050: 2435050
8	LMNB2	NM_032737.3(LMNB2): c.804C> T (p.Asp268=)	single nucleotide variant	Benign/Likely benign	rs150969746	GRCh38	Chromosome 19, 2435052: 2435052
9	LMNB2	NM_032737.3(LMNB2): c.402C> T (p.Ser134=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148213507	GRCh38	Chromosome 19, 2438531: 2438531
10	LMNB2	NM_032737.3(LMNB2): c.402C> T (p.Ser134=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148213507	GRCh37	Chromosome 19, 2438529: 2438529
11	LMNB2	NM_032737.3(LMNB2): c.856-8C> T	single nucleotide variant	Likely benign	rs766316644	GRCh38	Chromosome 19, 2434921: 2434921
12	LMNB2	NM_032737.3(LMNB2): c.856-8C> T	single nucleotide variant	Likely benign	rs766316644	GRCh37	Chromosome 19, 2434919: 2434919
13	LMNB2	NM_032737.3(LMNB2): c.1821+4G> A	single nucleotide variant	Uncertain significance	rs779811801	GRCh38	Chromosome 19, 2431544: 2431544
14	LMNB2	NM_032737.3(LMNB2): c.1821+4G> A	single nucleotide variant	Uncertain significance	rs779811801	GRCh37	Chromosome 19, 2431542: 2431542
15	LMNB2	NM_032737.3(LMNB2): c.1707C> T (p.Gly569=)	single nucleotide variant	Likely benign	rs372581793	GRCh38	Chromosome 19, 2431786: 2431786
16	LMNB2	NM_032737.3(LMNB2): c.1707C> T (p.Gly569=)	single nucleotide variant	Likely benign	rs372581793	GRCh37	Chromosome 19, 2431784: 2431784
17	LMNB2	NM_032737.3(LMNB2): c.1698C> T (p.Asn566=)	single nucleotide variant	Likely benign	rs147619532	GRCh38	Chromosome 19, 2431795: 2431795
18	LMNB2	NM_032737.3(LMNB2): c.1698C> T (p.Asn566=)	single nucleotide variant	Likely benign	rs147619532	GRCh37	Chromosome 19, 2431793: 2431793
19	LMNB2	NM_032737.3(LMNB2): c.815G> A (p.Arg272Gln)	single nucleotide variant	Likely benign	rs142557433	GRCh38	Chromosome 19, 2435041: 2435041
20	LMNB2	NM_032737.3(LMNB2): c.815G> A (p.Arg272Gln)	single nucleotide variant	Likely benign	rs142557433	GRCh37	Chromosome 19, 2435039: 2435039
21	LMNB2	NM_032737.3(LMNB2): c.443G> A (p.Arg148His)	single nucleotide variant	Uncertain significance	rs779429811	GRCh38	Chromosome 19, 2438490: 2438490
22	LMNB2	NM_032737.3(LMNB2): c.443G> A (p.Arg148His)	single nucleotide variant	Uncertain significance	rs779429811	GRCh37	Chromosome 19, 2438488: 2438488
23	LMNB2	NM_032737.3(LMNB2): c.347G> A (p.Arg116Gln)	single nucleotide variant	Uncertain significance	rs370820384	GRCh38	Chromosome 19, 2444458: 2444458
24	LMNB2	NM_032737.3(LMNB2): c.347G> A (p.Arg116Gln)	single nucleotide variant	Uncertain significance	rs370820384	GRCh37	Chromosome 19, 2444456: 2444456
25	LMNB2	NM_032737.3(LMNB2): c.1575C> T (p.Ala525=)	single nucleotide variant	Likely benign	rs140216957	GRCh38	Chromosome 19, 2432431: 2432431
26	LMNB2	NM_032737.3(LMNB2): c.1575C> T (p.Ala525=)	single nucleotide variant	Likely benign	rs140216957	GRCh37	Chromosome 19, 2432429: 2432429
27	LMNB2	NM_032737.3(LMNB2): c.1344C> T (p.Gly448=)	single nucleotide variant	Likely benign	rs144665669	GRCh38	Chromosome 19, 2433964: 2433964
28	LMNB2	NM_032737.3(LMNB2): c.1344C> T (p.Gly448=)	single nucleotide variant	Likely benign	rs144665669	GRCh37	Chromosome 19, 2433962: 2433962
29	LMNB2	NM_032737.3(LMNB2): c.1332C> T (p.Pro444=)	single nucleotide variant	Likely benign	rs998616364	GRCh38	Chromosome 19, 2433976: 2433976
30	LMNB2	NM_032737.3(LMNB2): c.1332C> T (p.Pro444=)	single nucleotide variant	Likely benign	rs998616364	GRCh37	Chromosome 19, 2433974: 2433974
31	LMNB2	NM_032737.3(LMNB2): c.1221C> A (p.Ser407Arg)	single nucleotide variant	Uncertain significance	rs766553520	GRCh38	Chromosome 19, 2434087: 2434087
32	LMNB2	NM_032737.3(LMNB2): c.1221C> A (p.Ser407Arg)	single nucleotide variant	Uncertain significance	rs766553520	GRCh37	Chromosome 19, 2434085: 2434085
33	LMNB2	NM_032737.3(LMNB2): c.558+5G> A	single nucleotide variant	Uncertain significance	rs747264492	GRCh38	Chromosome 19, 2438370: 2438370
34	LMNB2	NM_032737.3(LMNB2): c.558+5G> A	single nucleotide variant	Uncertain significance	rs747264492	GRCh37	Chromosome 19, 2438368: 2438368
35	LMNB2	NM_032737.3(LMNB2): c.440G> A (p.Gly147Asp)	single nucleotide variant	Uncertain significance	rs768416033	GRCh38	Chromosome 19, 2438493: 2438493
36	LMNB2	NM_032737.3(LMNB2): c.440G> A (p.Gly147Asp)	single nucleotide variant	Uncertain significance	rs768416033	GRCh37	Chromosome 19, 2438491: 2438491
37	LMNB2	NM_032737.3(LMNB2): c.428C> T (p.Thr143Met)	single nucleotide variant	Uncertain significance	rs375961613	GRCh38	Chromosome 19, 2438505: 2438505
38	LMNB2	NM_032737.3(LMNB2): c.428C> T (p.Thr143Met)	single nucleotide variant	Uncertain significance	rs375961613	GRCh37	Chromosome 19, 2438503: 2438503
39	LMNB2	NM_032737.3(LMNB2): c.1554G> C (p.Thr518=)	single nucleotide variant	Benign	rs11882908	GRCh38	Chromosome 19, 2432452: 2432452
40	LMNB2	NM_032737.3(LMNB2): c.1554G> C (p.Thr518=)	single nucleotide variant	Benign	rs11882908	GRCh37	Chromosome 19, 2432450: 2432450
41	LMNB2	NM_032737.3(LMNB2): c.1403C> G (p.Ala468Gly)	single nucleotide variant	Uncertain significance	rs766297775	GRCh38	Chromosome 19, 2433905: 2433905
42	LMNB2	NM_032737.3(LMNB2): c.1403C> G (p.Ala468Gly)	single nucleotide variant	Uncertain significance	rs766297775	GRCh37	Chromosome 19, 2433903: 2433903
43	LMNB2	NM_032737.3(LMNB2): c.1363G> C (p.Gly455Arg)	single nucleotide variant	Likely benign	rs772769360	GRCh38	Chromosome 19, 2433945: 2433945
44	LMNB2	NM_032737.3(LMNB2): c.1363G> C (p.Gly455Arg)	single nucleotide variant	Likely benign	rs772769360	GRCh37	Chromosome 19, 2433943: 2433943
45	LMNB2	NM_032737.3(LMNB2): c.1256C> G (p.Ser419Trp)	single nucleotide variant	Uncertain significance	rs368949581	GRCh38	Chromosome 19, 2434052: 2434052
46	LMNB2	NM_032737.3(LMNB2): c.1256C> G (p.Ser419Trp)	single nucleotide variant	Uncertain significance	rs368949581	GRCh37	Chromosome 19, 2434050: 2434050
47	LMNB2	NM_032737.3(LMNB2): c.1822-12_1822-5dup	duplication	Uncertain significance	rs542821471	GRCh38	Chromosome 19, 2430957: 2430964
48	LMNB2	NM_032737.3(LMNB2): c.1822-12_1822-5dup	duplication	Uncertain significance	rs542821471	GRCh37	Chromosome 19, 2430955: 2430962
49	LMNB2	NM_032737.3(LMNB2): c.1682G> T (p.Arg561Leu)	single nucleotide variant	Uncertain significance	rs145444042	GRCh38	Chromosome 19, 2431811: 2431811
50	LMNB2	NM_032737.3(LMNB2): c.1682G> T (p.Arg561Leu)	single nucleotide variant	Uncertain significance	rs145444042	GRCh37	Chromosome 19, 2431809: 2431809

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Expression for Epilepsy, Progressive Myoclonic, 9

Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic, 9.

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Pathways for Epilepsy, Progressive Myoclonic, 9

Pathways related to Epilepsy, Progressive Myoclonic, 9 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Apoptosis and survival Caspase cascade ²³ Show member pathways Apoptosis and survival FAS signaling cascades ²³ Breakdown of the nuclear lamina ⁶⁷ Caspase cascade in apoptosis ¹ Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation ¹ FasL/ CD95L signaling ⁶⁷ Influenza A virus infection ¹	11.22	LMNB2 MIR7108
2	Gastric Cancer Network 2 ¹	10.14	LMNB2 MIR7108

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GO Terms for Epilepsy, Progressive Myoclonic, 9

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Sources for Epilepsy, Progressive Myoclonic, 9

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

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³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

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⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

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⁶⁶ R&D Systems

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Epilepsy, Progressive Myoclonic, 9 (EPM9)

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 9

MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 9:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Epilepsy, Progressive Myoclonic, 9

Related Diseases for Epilepsy, Progressive Myoclonic, 9

Diseases in the Epilepsy, Myoclonic Juvenile family:

Diseases related to Epilepsy, Progressive Myoclonic, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 9

Human phenotypes related to Epilepsy, Progressive Myoclonic, 9:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 9

Genetic Tests for Epilepsy, Progressive Myoclonic, 9

Genetic tests related to Epilepsy, Progressive Myoclonic, 9:

Anatomical Context for Epilepsy, Progressive Myoclonic, 9

MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic, 9:

Publications for Epilepsy, Progressive Myoclonic, 9

Articles related to Epilepsy, Progressive Myoclonic, 9:

Genes for Epilepsy, Progressive Myoclonic, 9

Genes related to Epilepsy, Progressive Myoclonic, 9 (1 elite genes):

Variations for Epilepsy, Progressive Myoclonic, 9

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 9:

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 9:

Expression for Epilepsy, Progressive Myoclonic, 9

Pathways for Epilepsy, Progressive Myoclonic, 9

Pathways related to Epilepsy, Progressive Myoclonic, 9 according to GeneCards Suite gene sharing:

GO Terms for Epilepsy, Progressive Myoclonic, 9

Sources for Epilepsy, Progressive Myoclonic, 9