Disease #03454 (EPM (epilepsy, myoclonic, progressive (EPM)))

Official abbreviation	EPM
Name	epilepsy, myoclonic, progressive (EPM)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	75
Phenotype entries for this disease	66
Associated with 2 genes	CSTB, GOSR2
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
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Antarctica
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Antigua and Barbuda
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Armenia
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Aruba
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Australia
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Austria
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Bahrain
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Belarus
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Belgium
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Benin
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Bermuda
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Bhutan
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Botswana
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
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Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
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Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
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Czech Republic
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Denmark
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Djibouti
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Dominica
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Dominican Republic
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East Timor
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Ecuador
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Egypt
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El Salvador
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England
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Equatorial Guinea
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Eritrea
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Estonia
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Ethiopia
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Falkland Islands (Malvinas)
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Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Grenada
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Guam
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Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
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Guinea-Bissau
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Guyana
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Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
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Iran
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Iraq
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Ireland
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Israel
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Italy
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Jamaica
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Japan
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Jordan
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Kazakhstan
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Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
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Latvia
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Lebanon
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
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Maldives
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Mali
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Malta
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Marshall Islands
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Martinique
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Mauritania
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Mauritius
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Mayotte
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Mexico
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Micronesia
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Moldova
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Monaco
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Mongolia
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Montserrat
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Morocco
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Mozambique
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Myanmar
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Namibia
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Nauru
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Nepal
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Netherlands
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Netherlands Antilles
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Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
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New Zealand
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Nicaragua
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Nigeria
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Niue
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Norfolk Island
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Northern Ireland
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Northern Mariana Islands
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Norway
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Oman
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Pakistan
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Palau
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Palestine
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Panama
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Papua New Guinea
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Paraguay
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Peru
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Philippines
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Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
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Russia
(Russia)
Russian Federation
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Rwanda
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S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
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Senegal
(Senegal)
Serbia
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Seychelles
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Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
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Somalia
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South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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!	Date	!2020-03	all entries not matching March, 2020
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combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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Example	Matches
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75 entries on 1 page. Showing entries 1 - 75.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00334899	PME83	PubMed: Courage 2021, Journal: Courage 2021	-	M	no	Australia	-	-	-	-	-	EPM	Developmental delay. Late walker and always unstaedy with tremor. Ataxia (approx 2.5y). Drop attacks and absence seizures (4y); TCS (11y); Wheelchair (11y);. Severe generalised and multifocal myoclonus (15y); myoclonic status. Slow cognitive regression from 5y. Severe intellectual disability. No pyramidal signs and head circumference normal. Alive age 37y.	-	SEMA6B	1	1	Carolina Courage
00334902	PME25	PubMed: Courage 2021, Journal: Courage 2021	-	F	no	Canada	Italy	-	-	-	-	EPM	Developmental delay. Walked independently at 2y; unsteady wide gait noted at 2.5y. Generalized epileptiform discharges recorded at 2.5yr. First TCS at 5y during illness. Recurrent convulsions some with a focal component. Resting and action myoclonus noted at 10y. Tremor. Increasing difficultly with gait from 11y; wheelchair by 14y. Dysarthria noted at 16y. Moderate intellectual disability; no definitive cognitive decline. No pyramidal signs and head circumference on 50th centile. Alive at 39y.	-	SEMA6B	1	1	Carolina Courage
00399378	patient	PubMed: Praschberger 2015	3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	-	United Kingdom (Great Britain)	-	>61y	-	-	-	EPM	see paper ..., progressive myoclonus epilepsy; 2y-mild gait ataxia, transient episodes omotor deterioration triggered by infection and fever; 14y-generalized action myoclonus, epilepsy; heterozygous carrier brother suffers from typical cervical dystonia	GOSR2	GOSR2	2	1	Johan den Dunnen
00399381	Pat6	PubMed: Boisse Lomax 2013	patient, second cousin parents	M	yes	Norway	-	-	-	-	-	EPM	see paper; ..., 1y-ataxia; 4y6m-myoclonus; nocturnal status myoclonica; 8y6m-generalized tonic clonic seizures; 14m-febrile convulsion; scoliosis, thickened webbing between second and third toe; highest CK 1135 IU; 11y-wheelchair bound	GOSR2	GOSR2	1	1	Johan den Dunnen
00399382	Pat7	PubMed: Boisse Lomax 2013	-	M	-	Denmark	-	-	-	-	-	EPM	see paper; ..., 3y-ataxia; 5y-myoclonus; 21y-generalized tonic clonic seizures; 7y-absence; drop attacks during fever; 2y-atypical absence; scoliosis, pes cavus; highest CK 2360 IU; 10y-wheelchair bound; 24y-dysphagia; 26y-PEG, respirator dependent	GOSR2	GOSR2	1	1	Johan den Dunnen
00399383	Pat8	PubMed: Boisse Lomax 2013	-	M	-	Netherlands	-	27y	-	-	-	EPM	see paper; ..., 3y6m-ataxia; 4y-myoclonus; 8y-generalized tonic clonic seizures; 5y-absence; scoliosis; highest CK 2467 IU; 10y-wheelchair bound; 25y-dysphagia; 27y-deceased status epilepticus	GOSR2	GOSR2	1	1	Johan den Dunnen
00399384	Pat9	PubMed: Boisse Lomax 2013	-	F	-	Germany	-	-	-	-	-	EPM	see paper; ..., 2y-ataxia; 6y-myoclonus; 10y-generalized tonic clonic seizures; drop attacks; scoliosis, pes cavus; highest CK 500 IU; 14y-wheelchair bound	GOSR2	GOSR2	1	1	Johan den Dunnen
00399385	Pat10	PubMed: Boisse Lomax 2013	-	M	yes	Denmark	-	-	-	-	-	EPM	see paper; ..., 3y-ataxia; 12y-myoclonus; 3y-generalized tonic clonic seizures, absence, drop attacks; scoliosis; highest CK 391 IU; 24y-wheelchair bound; 26y-dysphagia	GOSR2	GOSR2	1	1	Johan den Dunnen
00399386	Pat11;Pat7	PubMed: Boisse Lomax 2013, PubMed: Polet 2020	-	F	-	Netherlands	-	-	-	-	-	EPM	see paper; ..., 2y3m-ataxia; 6y-myoclonus; 12y-generalized tonic clonic seizures; scoliosis, pes cavus; highest CK 989 IU; 10y-wheelchair bound; dysphagia early childhood	GOSR2	GOSR2	1	1	Johan den Dunnen
00399389	PatIV1;Pat6	PubMed: Anderson 2016, PubMed: Polet 2020	4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives	M	-	South Africa	Germany-N	-	-	-	-	EPM	see paper; ...	GOSR2	GOSR2	1	3	Johan den Dunnen
00399390	PatIV5;Pat15	PubMed: Anderson 2016, PubMed: Polet 2020	PatIV5	F	-	South Africa	Germany-N	-	-	-	-	EPM	see paper; ...	GOSR2	GOSR2	1	1	Johan den Dunnen
00399391	PatIV6;Pat13	PubMed: Anderson 2016, PubMed: Polet 2020	PatIV6	F	-	South Africa	Germany-N	-	-	-	-	EPM	see paper; ...	GOSR2	GOSR2	1	1	Johan den Dunnen
00399410	patients	PubMed: Polet 2020	8 new patients	F;M	-	-	-	-	-	-	-	EPM	-	GOSR2	GOSR2	1	8	Johan den Dunnen
00399412	-	PubMed: Boisse Lomax 2013	-	-	-	-	-	-	-	-	-	EPM	-	GOSR2	GOSR2	1	1	Johan den Dunnen
00399413	-	PubMed: Boisse Lomax 2013	-	-	-	-	-	-	-	-	-	EPM	-	GOSR2	GOSR2	1	1	Johan den Dunnen
00399414	-	PubMed: Boisse Lomax 2013	-	-	-	-	-	-	-	-	-	EPM	-	GOSR2	GOSR2	1	1	Johan den Dunnen
00399416	-	PubMed: Boisse Lomax 2013	-	-	-	-	-	-	-	-	-	EPM	-	GOSR2	GOSR2	1	1	Johan den Dunnen
00401200	Pat1	PubMed: Polet 2020	-	M	-	-	-	-	-	-	-	EPM	2-3y-trembling/jerks, frequently falling; 4y-ataxia; 4y-myoclonus; walks	GOSR2	GOSR2	1	1	Johan den Dunnen
00401201	Pat2	PubMed: Polet 2020	-	M	-	-	-	-	-	-	-	EPM	1-2y-delayed motor development (difficulties sitting without support, 22m-walk), gait disorder, frequently falling, clumsiness, hypotonia; 2y-ataxia; 5y-myoclonus; 7y-seizures; walks	GOSR2	GOSR2	1	1	Johan den Dunnen
00401202	Pat3	PubMed: Polet 2020	-	F	-	-	-	-	-	-	-	EPM	1y-clumsiness, frequently falling; 2y-ataxia during intercurrent illness; 2y-ataxia; 3y-myoclonus; 7y-seizures; scoliosis, pes varus; barely walks, frequent use wheelchair; CK 2816	GOSR2	GOSR2	1	1	Johan den Dunnen
00401203	Pat10	PubMed: Polet 2020	-	M	-	-	-	-	-	-	-	EPM	slightly delayed development (11m-sit, 16m-walk); 4y-muscle weakness, areflexia, facial diplegia during intercurrent illness (initially presumed to be GBS); 5y-ataxia; 8y-myoclonus; 8y-seizures; scoliosis, pes cavus; barely walks, frequent use wheelchair; CH 83	GOSR2	GOSR2	1	1	Johan den Dunnen
00401204	Pat11	PubMed: Polet 2020	-	M	-	-	-	-	-	-	-	EPM	birth-jerks; 7y-clumsiness ; 8y-ataxia; 9y-myoclonus; 8y-seizures; scoliosis, syndactyly of hands and toes; barely walks, frequent use wheelchair; CK 182	GOSR2	GOSR2	1	1	Johan den Dunnen
00401205	Pat14	PubMed: Polet 2020	-	M	-	-	-	-	-	-	-	EPM	2y-delayed motor development (2y-walk), gait disorder; ataxia; myoclonus; 6/7y-seizures; wheelchair bound; CK 237	GOSR2	GOSR2	1	1	Johan den Dunnen
00401206	Pat16	PubMed: Polet 2020	-	F	-	-	-	-	-	-	-	EPM	birth-hypotonia; 13m-walk on toes and needed support during walking; 4y-gait disorder, motoric skill impairment; ataxia; 5-6y-myoclonus; 8y-seizures; scoliosis; wheelchair bound	GOSR2	GOSR2	1	1	Johan den Dunnen
00401207	Pat17	PubMed: Polet 2020	-	F	-	-	-	-	-	-	-	EPM	2y-clumsiness, frequently falling, gait disorder after intercurrent illness; 3y-ataxia; 4y-myoclonus; 6y/7y-seizures; pes cavus; wheelchair bound	GOSR2	GOSR2	1	1	Johan den Dunnen
00404796	Fam2	PubMed: Pennacchio 1996	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	-	-	-	-	-	EPM	-	CSTB	CSTB	1	1	Johan den Dunnen
00404797	family	PubMed: Pennacchio 1996	2 families	-	-	-	-	-	-	-	-	EPM	-	CSTB	CSTB	1	2	Johan den Dunnen
00404798	GVA01	PubMed: Lalioti 1997	-	-	-	Morocco	-	-	-	-	-	EPM	-	CSTB	CSTB	1	1	Johan den Dunnen
00404799	GVA03	PubMed: Lalioti 1997	-	-	-	France	-	-	-	-	-	EPM	-	CSTB	CSTB	2	1	Johan den Dunnen
00404800	GVA08	PubMed: Lalioti 1997	-	-	-	Switzerland	-	-	-	-	-	EPM	-	CSTB	CSTB	1	1	Johan den Dunnen
00404801	GVA09	PubMed: Lalioti 1997	-	-	-	France	-	-	-	-	-	EPM	-	CSTB	CSTB	1	1	Johan den Dunnen
00404802	GVA10	PubMed: Lalioti 1997	-	-	-	Spain	-	-	-	-	-	EPM	-	CSTB	CSTB	1	1	Johan den Dunnen
00404803	GVA07	PubMed: Lalioti 1997	-	-	-	France	-	-	-	-	-	EPM	-	CSTB	CSTB	1	1	Johan den Dunnen
00404804	GVA06	PubMed: Lalioti 1997	-	-	-	France	-	-	-	-	-	EPM	-	CSTB	CSTB	1	1	Johan den Dunnen
00404805	GVA02	PubMed: Lalioti 1997	-	-	-	France	-	-	-	-	-	EPM	-	CSTB	CSTB	1	1	Johan den Dunnen
00404806	GVA04	PubMed: Lalioti 1997	-	-	-	Finland;France	-	-	-	-	-	EPM	-	CSTB	CSTB	1	1	Johan den Dunnen
00404807	GVA05	PubMed: Lalioti 1997	-	-	-	France	-	-	-	-	-	EPM	-	CSTB	CSTB	1	1	Johan den Dunnen
00404815	Fam1	PubMed: Lafreniere 1997	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Finland	-	-	-	-	-	EPM	-	CSTB	CSTB	2	2	Johan den Dunnen
00404816	Fam2	PubMed: Lafreniere 1997	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Finland	-	-	-	-	-	EPM	-	CSTB	CSTB	2	2	Johan den Dunnen
00404817	Fam3	PubMed: Lafreniere 1997	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Finland	-	-	-	-	-	EPM	-	CSTB	CSTB	2	2	Johan den Dunnen
00404818	Fam4	PubMed: Lafreniere 1997	3-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Finland	-	-	-	-	-	EPM	-	CSTB	CSTB	2	2	Johan den Dunnen
00404819	Fam5	PubMed: Lafreniere 1997	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	-	Canada	French-Canadian	-	-	-	-	EPM	-	CSTB	CSTB	2	2	Johan den Dunnen
00404820	Fam6	PubMed: Lafreniere 1997	3-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Japan	-	-	-	-	-	EPM	-	CSTB	CSTB	2	1	Johan den Dunnen
00404821	Fam7	PubMed: Lafreniere 1997	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	-	Iran	-	-	-	-	-	EPM	-	CSTB	CSTB	2	2	Johan den Dunnen
00404822	Fam8	PubMed: Lafreniere 1997	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Italy	-	-	-	-	-	EPM	-	CSTB	CSTB	2	1	Johan den Dunnen
00404823	Fam9	PubMed: Lafreniere 1997	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Germany;England;France	-	-	-	-	-	EPM	-	CSTB	CSTB	2	1	Johan den Dunnen
00404824	Fam10	PubMed: Lafreniere 1997	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Cuba	-	-	-	-	-	EPM	-	CSTB	CSTB	2	2	Johan den Dunnen
00404825	Fam11	PubMed: Lafreniere 1997	3-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents	F;M	-	Denmark	-	-	-	-	-	EPM	-	CSTB	CSTB	2	4	Johan den Dunnen
00404826	Fam12	PubMed: Lafreniere 1997	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Canada	French-Canadian;Ireland	-	-	-	-	EPM	-	CSTB	CSTB	2	1	Johan den Dunnen
00404827	Fam13	PubMed: Lafreniere 1997	2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents	M	-	Poland	-	-	-	-	-	EPM	-	CSTB	CSTB	2	3	Johan den Dunnen
00404828	Fam14	PubMed: Lafreniere 1997	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Denmark	-	-	-	-	-	EPM	-	CSTB	CSTB	2	1	Johan den Dunnen
00404829	Fam15	PubMed: Lafreniere 1997	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Hungary	-	-	-	-	-	EPM	-	CSTB	CSTB	2	2	Johan den Dunnen
00404830	Fam16	PubMed: Lafreniere 1997	-	M	-	Finland	-	-	-	-	-	EPM	-	CSTB	CSTB	1	1	Johan den Dunnen
00404831	Fam17	PubMed: Lafreniere 1997	-	M	-	Finland	-	-	-	-	-	EPM	-	CSTB	CSTB	1	1	Johan den Dunnen
00404832	Fam18	PubMed: Lafreniere 1997	-	F	-	Finland	-	-	-	-	-	EPM	-	CSTB	CSTB	2	1	Johan den Dunnen
00404833	Fam19	PubMed: Lafreniere 1997	-	-	-	United States	-	-	-	-	-	EPM	-	CSTB	CSTB	2	1	Johan den Dunnen
00404834	Fam20	PubMed: Lafreniere 1997	-	-	-	United States	-	-	-	-	-	EPM	-	CSTB	CSTB	2	1	Johan den Dunnen
00404835	PatEP6	PubMed: Bespalova 1997	Pat3 in Pranzatelli 1995	-	-	United States	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	1	1	Johan den Dunnen
00404860	family	PubMed: Mazarib 2001	7-generation family, 7 affected (3F, 4M), unaffected heterozygous carrier parents/relatives	F;M	yes	Israel	Arab-Galilee	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	1	7	Johan den Dunnen
00404863	Pat1	PubMed: Kagitani-Shimono 2002	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Japan	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	2	1	Johan den Dunnen
00404864	Pat2	PubMed: Kagitani-Shimono 2002	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Japan	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	1	1	Johan den Dunnen
00404865	patient	PubMed: Pinto 2012	-	M	no	Portugal	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	1	1	Johan den Dunnen
00404874	Pat1	PubMed: Canafoglia 2012	-	M	-	Italy	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	2	1	Johan den Dunnen
00404875	Pat2	PubMed: Canafoglia 2012	2-generation family, 2 affected brothers	M	-	Spain	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	2	2	Johan den Dunnen
00404876	Pat3	PubMed: Canafoglia 2012	brother	M	-	Spain	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	2	1	Johan den Dunnen
00404877	Pat4	PubMed: Canafoglia 2012	-	M	-	Italy	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	2	1	Johan den Dunnen
00404878	Pat5	PubMed: Canafoglia 2012	-	M	-	Italy	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	2	1	Johan den Dunnen
00404879	Pat6	PubMed: Canafoglia 2012	-	M	-	Italy	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	2	1	Johan den Dunnen
00404880	Pat7	PubMed: Canafoglia 2012	2-generation family, 2 affected brothers	M	-	Italy	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	2	2	Johan den Dunnen
00404881	Pat8	PubMed: Canafoglia 2012	brother	M	-	Italy	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	2	1	Johan den Dunnen
00404882	patients	PubMed: Canafoglia 2012	40 homozygous individuals	-	-	Italy	-	-	-	-	-	EPM	see paper; ...	CSTB	CSTB	1	40	Johan den Dunnen
00404884	Fam7Pat51/52	PubMed: Larson 1999	family, 2 affected	-	-	(United States)	-	-	-	-	-	EPM	-	CSTB	CSTB	2	1	Johan den Dunnen
00404885	Fam15Pat142/143	PubMed: Larson 1999	family, 2 affected	-	-	(United States)	-	-	-	-	-	EPM	-	CSTB	CSTB	2	2	Johan den Dunnen
00404886	Fam16Pat27	PubMed: Larson 1999	-	-	-	(United States)	-	-	-	-	-	EPM	-	CSTB	CSTB	2	1	Johan den Dunnen
00404887	Fam17Pat163	PubMed: Larson 1999	-	-	-	(United States)	-	-	-	-	-	EPM	-	CSTB	CSTB	2	1	Johan den Dunnen

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Global Variome shared LOVD