All individuals with variants in gene CACNA1H

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
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
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
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
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
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
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
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.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

76 entries on 1 page. Showing entries 1 - 76.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00035018	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035019	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035020	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035021	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035022	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035023	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035024	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035025	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035026	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035027	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035028	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035029	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035030	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035031	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035032	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035033	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035034	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035035	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035036	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035037	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035038	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035039	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035040	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035041	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035042	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035043	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035044	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035045	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035046	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035047	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035048	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035049	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035050	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035051	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035052	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035053	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035054	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035055	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035056	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035057	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035058	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035059	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035060	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035061	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035062	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035063	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035064	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035065	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035066	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035067	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00147128	30631761-Pat36_S4	PubMed: Han 2018	-	-	-	Korea	-	-	-	-	-	DD	developmental delay, intellectual disability, epilepsy, ventricular septal defect.	1	1	Joonhong Park
00150171	26539891-FamBAB5391	PubMed: Karaca 2015	-	-	-	-	-	-	-	family structure in paper	-	?	intellectual diability, microcephaly, cortical atrophy	2	4	Johan den Dunnen
00181186	62075	-	-	F	no	Switzerland	ancestors from Switzerland and South Italy	-	-	-	-	EE	-	1	1	Anaïs Begemann
00210009	-	-	-	F	-	Germany	-	-	-	-	-	-	HP:0001251 (Ataxia); HP:0011442 (Abnormality of central motor function)	1	1	Andreas Laner
00291355	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	22	Mohammed Faruq
00291356	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00291357	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	140	Mohammed Faruq
00291358	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	38	Mohammed Faruq
00291359	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291360	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00291361	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00291362	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00291363	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295910	-	-	-	F	-	-	-	-	-	-	-	?	Abnormality of higher mental function (HP:0011446); Apnea (HP:0002104); Generalized seizures (HP:0002197)	1	1	Andreas Laner
00296550	-	-	-	F	-	-	-	-	-	-	-	?	Abnormality of nervous system physiology (HP:0012638); Abnormality of neuronal migration (HP:0002269); Heterotopia (HP:0002282); Focal seizures (HP:0007359)	1	1	Andreas Laner
00304490	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	10	Mohammed Faruq
00305912	Pat4	PubMed: Marcogliese 2018	2-generation family, 1 affected, unaffected parents	F	-	-	-	-	-	-	-	NDD, VMD	no dysmorphisms; motor regression present (age onset unknown); 12y-single words; unsteady gait, clumsy, 12y-mostly wheelchair-bound; 12y-loss of fine motor skills; excessive drooling; 12y-lost continence; 15y-lower extremity dystonia; bilateral ptosis, macular degeneration; 12y-poor balance; Bracken Basics Concepts III Receptive and School Readiness Composite, Conner’s Parent Rating Scale, 6y-Child Behavior Checklist intellectual functioning at approximately 1-3 year level; 13y-epilepsy, spells that consist of falling that last about 1 min; EEG 6.5y-no electrographic or electroclinical sz, but photic stim produced photoconvulsive response, 13y-moderately abnormal - recorded photo myoclonic sz during intermittent photic stim, generalized interictal epileptiform features, sleep architecture was additionally somewhat disrupted with high-voltage rhythmic delta; MRI brain 6y-normal, 13y-normal, 15y-thin corpus callosum but overall within normal limits, MRI brain 13y-spine normal, 15y-spine normal	1	1	Johan den Dunnen
00334678	-	PubMed: Maranhao 2015	analysis 25 Pedigrees	-	-	Pakistan	-	-	-	-	-	retinal disease	-	1	7	LOVD
00374457	S-4256	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Neurodevelopmental delay, seizures, strabismus, hypotonia, microcephaly, hypomyelination, spasticity, flat faces and visual impairment	1	1	Johan den Dunnen
00374673	S-5549	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374674	S-4738	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00374675	S-5457	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374676	S-2377	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374677	S-487	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00438693	HSJ0719	PubMed: Hamdan 2017	WGS analysis 197 individuals with unexplained DEE (unaffected parents)	-	-	Canada	-	-	-	-	pharmaco-resistant seizures	DEE	-	1	1	Johan den Dunnen
00455167	306547	-	-	F	no	Germany	-	-	-	-	-	ECA6	EEG abnormality, Febrile seizure (within the age range of 3 months to 6 years), Complex febrile seizure	1	1	Andreas Laner

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Global Variome shared LOVD

CACNA1H (calcium channel, voltage-dependent, T type...)